Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II
Identifieur interne : 007095 ( Istex/Corpus ); précédent : 007094; suivant : 007096Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II
Auteurs : K-E Lee ; H-Y Kang ; S-K Lee ; S-H Yoo ; J-C Lee ; Y-H Hwang ; Kh Nam ; J-S Kim ; J-C Park ; J-W KimSource :
- Clinical Genetics [ 0009-9163 ] ; 2011-04.
English descriptors
- KwdEn :
- Allele, Biol, Biol chem, Chromatogram, Clinical phenotype, Coding region, Deletion, Dentin, Dentin dysplasia, Dentin matrix, Dentin mineralization, Dentin phosphoprotein, Dentin sialophosphoprotein, Dentin sialoprotein, Dentinogenesis, Dentinogenesis imperfecta, Dentinogenesis imperfecta type, Dentistry, Dspp, Dspp gene, Dspp protein, Frameshift, Frameshift mutations, Frontal photograph, Genet, Hereditary dentin defects, Imperfecta, Korean families, Matrix, Mineralization, Mutant, Mutant protein, Mutation, Pediatric dentistry, Phenotype, Phosphoprotein, Proband, Pulp chambers, Seoul, Sequencing, Sequencing chromatogram, Tooth eruption.
- Teeft :
- Allele, Biol, Biol chem, Chromatogram, Clinical phenotype, Coding region, Deletion, Dentin, Dentin dysplasia, Dentin matrix, Dentin mineralization, Dentin phosphoprotein, Dentin sialophosphoprotein, Dentin sialoprotein, Dentinogenesis, Dentinogenesis imperfecta, Dentinogenesis imperfecta type, Dentistry, Dspp, Dspp gene, Dspp protein, Frameshift, Frameshift mutations, Frontal photograph, Genet, Hereditary dentin defects, Imperfecta, Korean families, Matrix, Mineralization, Mutant, Mutant protein, Mutation, Pediatric dentistry, Phenotype, Phosphoprotein, Proband, Pulp chambers, Seoul, Sequencing, Sequencing chromatogram, Tooth eruption.
Abstract
Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the DSPP gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.
Url:
DOI: 10.1111/j.1399-0004.2010.01483.x
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ISTEX:E33FB65127B222CADFD6ADA5F64B6D8C3D8C9004Le document en format XML
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frameshift mutations in dentinogenesis imperfecta type II</title><author><name sortKey="Lee, K" sort="Lee, K" uniqKey="Lee K" first="K-E" last="Lee">K-E Lee</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Kang, H" sort="Kang, H" uniqKey="Kang H" first="H-Y" last="Kang">H-Y Kang</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Lee, S" sort="Lee, S" uniqKey="Lee S" first="S-K" last="Lee">S-K Lee</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Yoo, S" sort="Yoo, S" uniqKey="Yoo S" first="S-H" last="Yoo">S-H Yoo</name><affiliation><mods:affiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</mods:affiliation></affiliation></author><author><name sortKey="Lee, J" sort="Lee, J" uniqKey="Lee J" first="J-C" last="Lee">J-C Lee</name><affiliation><mods:affiliation>Seoul Children's Dental Center, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Hwang, Y" sort="Hwang, Y" uniqKey="Hwang Y" first="Y-H" last="Hwang">Y-H Hwang</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Nam, Kh" sort="Nam, Kh" uniqKey="Nam K" first="Kh" last="Nam">Kh Nam</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Kim, J" sort="Kim, J" uniqKey="Kim J" first="J-S" last="Kim">J-S Kim</name><affiliation><mods:affiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</mods:affiliation></affiliation></author><author><name sortKey="Park, J" sort="Park, J" uniqKey="Park J" first="J-C" last="Park">J-C Park</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation></author><author><name sortKey="Kim, J" sort="Kim, J" uniqKey="Kim J" first="J-W" last="Kim">J-W Kim</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: pedoman@snu.ac.kr</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="378">378</biblScope><biblScope unit="page" to="384">384</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-04">2011-04</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term><term>Biol</term><term>Biol chem</term><term>Chromatogram</term><term>Clinical phenotype</term><term>Coding region</term><term>Deletion</term><term>Dentin</term><term>Dentin dysplasia</term><term>Dentin matrix</term><term>Dentin mineralization</term><term>Dentin phosphoprotein</term><term>Dentin sialophosphoprotein</term><term>Dentin sialoprotein</term><term>Dentinogenesis</term><term>Dentinogenesis imperfecta</term><term>Dentinogenesis imperfecta type</term><term>Dentistry</term><term>Dspp</term><term>Dspp gene</term><term>Dspp protein</term><term>Frameshift</term><term>Frameshift mutations</term><term>Frontal photograph</term><term>Genet</term><term>Hereditary dentin defects</term><term>Imperfecta</term><term>Korean families</term><term>Matrix</term><term>Mineralization</term><term>Mutant</term><term>Mutant protein</term><term>Mutation</term><term>Pediatric dentistry</term><term>Phenotype</term><term>Phosphoprotein</term><term>Proband</term><term>Pulp chambers</term><term>Seoul</term><term>Sequencing</term><term>Sequencing chromatogram</term><term>Tooth eruption</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Allele</term><term>Biol</term><term>Biol chem</term><term>Chromatogram</term><term>Clinical phenotype</term><term>Coding region</term><term>Deletion</term><term>Dentin</term><term>Dentin dysplasia</term><term>Dentin matrix</term><term>Dentin mineralization</term><term>Dentin phosphoprotein</term><term>Dentin sialophosphoprotein</term><term>Dentin sialoprotein</term><term>Dentinogenesis</term><term>Dentinogenesis imperfecta</term><term>Dentinogenesis imperfecta type</term><term>Dentistry</term><term>Dspp</term><term>Dspp gene</term><term>Dspp protein</term><term>Frameshift</term><term>Frameshift mutations</term><term>Frontal photograph</term><term>Genet</term><term>Hereditary dentin defects</term><term>Imperfecta</term><term>Korean families</term><term>Matrix</term><term>Mineralization</term><term>Mutant</term><term>Mutant protein</term><term>Mutation</term><term>Pediatric dentistry</term><term>Phenotype</term><term>Phosphoprotein</term><term>Proband</term><term>Pulp chambers</term><term>Seoul</term><term>Sequencing</term><term>Sequencing chromatogram</term><term>Tooth eruption</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the DSPP gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>dentin</json:string><json:string>mutation</json:string><json:string>dspp</json:string><json:string>frameshift</json:string><json:string>proband</json:string><json:string>imperfecta</json:string><json:string>sequencing</json:string><json:string>dentinogenesis</json:string><json:string>phosphoprotein</json:string><json:string>biol</json:string><json:string>genet</json:string><json:string>dspp gene</json:string><json:string>mutant</json:string><json:string>deletion</json:string><json:string>dentin mineralization</json:string><json:string>mineralization</json:string><json:string>allele</json:string><json:string>phenotype</json:string><json:string>sequencing chromatogram</json:string><json:string>dentinogenesis 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chem</json:string></teeft></keywords><author><json:item><name>K‐E Lee</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>H‐Y Kang</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>S‐K Lee</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>S‐H Yoo</name><affiliations><json:string>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</json:string></affiliations></json:item><json:item><name>J‐C Lee</name><affiliations><json:string>Seoul Children's Dental Center, Seoul, Korea</json:string></affiliations></json:item><json:item><name>Y‐H Hwang</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>KH Nam</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>J‐S Kim</name><affiliations><json:string>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</json:string></affiliations></json:item><json:item><name>J‐C Park</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>J‐W Kim</name><affiliations><json:string>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string><json:string>Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</json:string><json:string>E-mail: pedoman@snu.ac.kr</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dentin dysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dentin sialophosphoprotein</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dentinogenesis imperfecta</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>frameshift mutation</value></json:item></subject><articleId><json:string>CGE1483</json:string></articleId><arkIstex>ark:/67375/WNG-NRPQVB8K-P</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the DSPP gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.</abstract><qualityIndicators><score>7.273</score><pdfWordCount>2777</pdfWordCount><pdfCharCount>17216</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>7</pdfPageCount><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>208</abstractWordCount><abstractCharCount>1426</abstractCharCount><keywordCount>4</keywordCount></qualityIndicators><title>Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II</title><pmid><json:string>20618350</json:string></pmid><genre><json:string>article</json:string></genre><host><title>Clinical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1111/(ISSN)1399-0004</json:string></doi><issn><json:string>0009-9163</json:string></issn><eissn><json:string>1399-0004</json:string></eissn><publisherId><json:string>CGE</json:string></publisherId><volume>79</volume><issue>4</issue><pages><first>378</first><last>384</last><total>7</total></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>2011</json:string></date><geogName></geogName><orgName><json:string>Science Research Center</json:string><json:string>Department of Pediatric Dentistry</json:string><json:string>Seoul National University Dental Hospital</json:string><json:string>Bone Metabolism Research Center</json:string><json:string>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</json:string><json:string>Ministry of Education, Science and Technology</json:string><json:string>Dental Research 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xml:id="author-0000"><persName><forename type="first">K‐E</forename><surname>Lee</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">H‐Y</forename><surname>Kang</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">S‐K</forename><surname>Lee</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">S‐H</forename><surname>Yoo</surname></persName><affiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</affiliation></author><author xml:id="author-0004"><persName><forename type="first">J‐C</forename><surname>Lee</surname></persName><affiliation>Seoul Children's Dental Center, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Y‐H</forename><surname>Hwang</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">KH</forename><surname>Nam</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">J‐S</forename><surname>Kim</surname></persName><affiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</affiliation></author><author xml:id="author-0008"><persName><forename type="first">J‐C</forename><surname>Park</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation></author><author xml:id="author-0009" role="corresp"><persName><forename type="first">J‐W</forename><surname>Kim</surname></persName><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation><affiliation>Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea<address><country key="KR"></country></address></affiliation><affiliation>Dr Jung‐Wook Kim, Department of Molecular Genetics, and Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, 275‐1 Yongon‐dong, Chongno‐gu, Seoul 110‐768, Korea.
Tel.: +82 2 2072 2639;
fax: +82 2 744 3599;
e‐mail: pedoman@snu.ac.kr</affiliation></author><idno type="istex">E33FB65127B222CADFD6ADA5F64B6D8C3D8C9004</idno><idno type="ark">ark:/67375/WNG-NRPQVB8K-P</idno><idno type="DOI">10.1111/j.1399-0004.2010.01483.x</idno><idno type="unit">CGE1483</idno><idno type="toTypesetVersion">file:CGE.CGE1483.pdf</idno></analytic><monogr><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="book-DOI">10.1111/(ISSN)1399-0004</idno><idno type="book-part-DOI">10.1111/cge.2011.79.issue-4</idno><idno type="product">CGE</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="378">378</biblScope><biblScope unit="page" to="384">384</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-04"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><p>Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.</p><p>The dentin sialophosphoprotein (<hi rend="italic">DSPP</hi>) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the <hi rend="italic">DSPP</hi> gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the <hi rend="italic">DSPP</hi> gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">dentin dysplasia</term><term xml:id="k2">dentin sialophosphoprotein</term><term xml:id="k3">dentinogenesis imperfecta</term><term xml:id="k4">frameshift mutation</term></keywords><keywords rend="tocHeading1"><term>SHORT REPORTS</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/E33FB65127B222CADFD6ADA5F64B6D8C3D8C9004/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="04104"><doi origin="wiley">10.1111/cge.2011.79.issue-4</doi><numberingGroup><numbering type="journalVolume" number="79">79</numbering><numbering type="journalIssue" number="4">4</numbering></numberingGroup><coverDate startDate="2011-04">April 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="11" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.2010.01483.x</doi><idGroup><id type="unit" value="CGE1483"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="tocHeading1">SHORT REPORTS</title></titleGroup><copyright>© 2010 John Wiley & Sons A/S</copyright><eventGroup><event type="firstOnline" date="2011-03-04"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-06-08"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.4.7 mode:FullText" date="2011-03-04"></event><event type="publishedOnlineFinalForm" date="2011-03-04"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="378">378</numbering><numbering type="pageLast" number="384">384</numbering></numberingGroup><correspondenceTo>Dr Jung‐Wook Kim, Department of Molecular Genetics, and Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, 275‐1 Yongon‐dong, Chongno‐gu, Seoul 110‐768, Korea.
Tel.: +82 2 2072 2639;
fax: +82 2 744 3599;
e‐mail: <email>pedoman@snu.ac.kr</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE1483.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 18 April 2010, revised and accepted for publication 3 June 2010</unparsedEditorialHistory><countGroup><count type="figureTotal" number="4"></count><count type="tableTotal" number="0"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="24"></count></countGroup><titleGroup><title type="main">Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II</title><title type="shortAuthors">Lee et al.</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>K‐E</givenNames><familyName>Lee</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>H‐Y</givenNames><familyName>Kang</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>S‐K</givenNames><familyName>Lee</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a2"><personName><givenNames>S‐H</givenNames><familyName>Yoo</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a3"><personName><givenNames>J‐C</givenNames><familyName>Lee</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a1"><personName><givenNames>Y‐H</givenNames><familyName>Hwang</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a1"><personName><givenNames>KH</givenNames><familyName>Nam</familyName></personName></creator><creator creatorRole="author" xml:id="cr8" affiliationRef="#a2"><personName><givenNames>J‐S</givenNames><familyName>Kim</familyName></personName></creator><creator creatorRole="author" xml:id="cr9" affiliationRef="#a1"><personName><givenNames>J‐C</givenNames><familyName>Park</familyName></personName></creator><creator creatorRole="author" xml:id="cr10" affiliationRef="#a1 #a4" corresponding="yes"><personName><givenNames>J‐W</givenNames><familyName>Kim</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="KR"><unparsedAffiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</unparsedAffiliation></affiliation><affiliation xml:id="a2"><unparsedAffiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="KR"><unparsedAffiliation>Seoul Children's Dental Center, Seoul, Korea</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="KR"><unparsedAffiliation>Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">dentin dysplasia</keyword><keyword xml:id="k2">dentin sialophosphoprotein</keyword><keyword xml:id="k3">dentinogenesis imperfecta</keyword><keyword xml:id="k4">frameshift mutation</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.</p><p>The dentin sialophosphoprotein (<i>DSPP</i>) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the <i>DSPP</i> gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the <i>DSPP</i> gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II</title></titleInfo><name type="personal"><namePart type="given">K‐E</namePart><namePart type="family">Lee</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H‐Y</namePart><namePart type="family">Kang</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S‐K</namePart><namePart type="family">Lee</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S‐H</namePart><namePart type="family">Yoo</namePart><affiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J‐C</namePart><namePart type="family">Lee</namePart><affiliation>Seoul Children's Dental Center, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y‐H</namePart><namePart type="family">Hwang</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">KH</namePart><namePart type="family">Nam</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J‐S</namePart><namePart type="family">Kim</namePart><affiliation>Department of Pediatric Dentistry, School of Dentistry, Dankook University, Chung Nam, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J‐C</namePart><namePart type="family">Park</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J‐W</namePart><namePart type="family">Kim</namePart><affiliation>Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><affiliation>Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea</affiliation><affiliation>E-mail: pedoman@snu.ac.kr</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2011-04</dateIssued><edition>Received 18 April 2010, revised and accepted for publication 3 June 2010</edition><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">4</extent><extent unit="tables">0</extent><extent unit="formulas">0</extent><extent unit="references">24</extent></physicalDescription><abstract lang="en">Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the DSPP gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.</abstract><subject lang="en"><genre>keywords</genre><topic>dentin dysplasia</topic><topic>dentin sialophosphoprotein</topic><topic>dentinogenesis imperfecta</topic><topic>frameshift mutation</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>79</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>378</start><end>384</end><total>7</total></extent></part></relatedItem><identifier type="istex">E33FB65127B222CADFD6ADA5F64B6D8C3D8C9004</identifier><identifier type="ark">ark:/67375/WNG-NRPQVB8K-P</identifier><identifier type="DOI">10.1111/j.1399-0004.2010.01483.x</identifier><identifier type="ArticleID">CGE1483</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2010 John Wiley & Sons A/S</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/E33FB65127B222CADFD6ADA5F64B6D8C3D8C9004/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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