MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Identifieur interne : 001310 ( Istex/Corpus ); précédent : 001309; suivant : 001311MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Auteurs : J-W Kim ; J P Simmer ; T C Hart ; P S Hart ; M D Ramaswami ; J D Bartlett ; J C-C HuSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-03.
English descriptors
- KwdEn :
- Academic press, Acid sequence, Allele, Allele transmission, Amelogenesis, Amelogenesis imperfecta, American academy, Amino acids, Autosomal, Autosomal recessive, Bartlett, Defective enamel, Dental phenotype, Dental phenotypes, Dentistry, Enamel, Enamel hypoplasia, Enamel layer, Enamel maturation, Enamel proteins, Enamelysin, Enamelysin knockout, Exon, Family members, Final extension, Haplotype, Haplotype analysis, Hemopexin, Hemopexin domain, Hemopexin domains, Hypomaturation, Hypomaturation amelogenesis imperfecta, Imperfecta, Intron, Intronic regions, Klk4, MMP-20, Matrix, Michigan school, Mrna, Mutation, Mutational, Mutational analyses, Mutational hotspot, National institutes, Normal enamel, Oral biol, Pediatric, Pediatric dentistry, Phenotype, Polymerase chain reaction, Proband, Proteolytic enzymes, Recessive, Secretory stage, Thin enamel, Yamada, amelogenesis imperfecta, enamel, enamelysin, hypomaturation AI.
- Teeft :
- Academic press, Acid sequence, Allele, Allele transmission, Amelogenesis, Amelogenesis imperfecta, American academy, Amino acids, Autosomal, Autosomal recessive, Bartlett, Defective enamel, Dental phenotype, Dental phenotypes, Dentistry, Enamel, Enamel hypoplasia, Enamel layer, Enamel maturation, Enamel proteins, Enamelysin, Enamelysin knockout, Exon, Family members, Final extension, Haplotype, Haplotype analysis, Hemopexin, Hemopexin domain, Hemopexin domains, Hypomaturation, Hypomaturation amelogenesis imperfecta, Imperfecta, Intron, Intronic regions, Klk4, Matrix, Michigan school, Mrna, Mutation, Mutational, Mutational analyses, Mutational hotspot, National institutes, Normal enamel, Oral biol, Pediatric, Pediatric dentistry, Phenotype, Polymerase chain reaction, Proband, Proteolytic enzymes, Recessive, Secretory stage, Thin enamel, Yamada.
Url:
DOI: 10.1136/jmg.2004.024505
Links to Exploration step
ISTEX:26F8205A60DDED3FA45BD1470B2A9825A901229CLe document en format XML
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Genetics</json:string></scopus></categories><publicationDate>2005</publicationDate><copyrightDate>2005</copyrightDate><doi><json:string>10.1136/jmg.2004.024505</json:string></doi><id>26F8205A60DDED3FA45BD1470B2A9825A901229C</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/26F8205A60DDED3FA45BD1470B2A9825A901229C/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/26F8205A60DDED3FA45BD1470B2A9825A901229C/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/26F8205A60DDED3FA45BD1470B2A9825A901229C/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://publisher-list.data.istex.fr">BMJ Publishing Group Ltd</publisher><availability><licence><p>Copyright 2005 Journal of Medical Genetics</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</p></availability><date>2005-03-02</date></publicationStmt><notesStmt><note type="other" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-7474895G-0">other</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note><note>Correspondence to:
Dr J C-C Hu
Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA; janhu@umich.edu</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta</title><author xml:id="author-0000"><persName><forename type="first">J-W</forename><surname>Kim</surname></persName><affiliation>Department of Pediatric Dentistry, College of Dentistry & Dental Research Institute, Seoul National University, Seoul, Korea; and University of Michigan, School of Dentistry, Ann Arbor, MI, USA</affiliation></author><author xml:id="author-0001"><persName><forename type="first">J P</forename><surname>Simmer</surname></persName><affiliation>Department of Biological and Material Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA</affiliation></author><author 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standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article xml:lang="en" article-type="other"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="other">0420271</article-id><article-id pub-id-type="doi">10.1136/jmg.2004.024505</article-id><article-id pub-id-type="other">jmedgenet;42/3/271</article-id><article-id pub-id-type="pmid">15744043</article-id><article-id pub-id-type="other">271</article-id><article-id pub-id-type="other">jmg.2004.024505</article-id><article-categories><subj-group subj-group-type="heading"><subject>Letters to JMG</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Immunology (including allergy)</subject></subj-group></article-categories><title-group><article-title>MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Kim</surname><given-names>J-W</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Simmer</surname><given-names>J P</given-names></name><xref rid="AFF2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Hart</surname><given-names>T C</given-names></name><xref rid="AFF3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Hart</surname><given-names>P S</given-names></name><xref rid="AFF4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Ramaswami</surname><given-names>M D</given-names></name><xref rid="AFF5">5</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Bartlett</surname><given-names>J D</given-names></name><xref rid="AFF6">6</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Hu</surname><given-names>J C-C</given-names></name><xref rid="AFF7">7</xref></contrib><aff id="AFF1"><label>1</label>Department of Pediatric Dentistry, College of Dentistry & Dental Research Institute, Seoul National University, Seoul, Korea; and University of Michigan, School of Dentistry, Ann Arbor, MI, USA</aff><aff id="AFF2"><label>2</label>Department of Biological and Material Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA</aff><aff id="AFF3"><label>3</label>National Institutes of Health, NIDCR</aff><aff id="AFF4"><label>4</label>National Institutes of Health, NHGRI</aff><aff id="AFF5"><label>5</label>National Institutes of Health, NIDCR</aff><aff id="AFF6"><label>6</label>Harvard-Forsyth Department of Cytokine Biology, The Forsyth Institute</aff><aff id="AFF7"><label>7</label>Department of Pediatric Dentistry, University of Michigan School of Dentistry, Ann Arbor, MI, USA</aff></contrib-group><author-notes><corresp>Correspondence to:
Dr J C-C Hu
Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA; <ext-link xlink:href="janhuumich.edu" ext-link-type="email" xlink:type="simple">janhu@umich.edu</ext-link></corresp></author-notes><pub-date pub-type="ppub"><month>3</month><year>2005</year></pub-date><pub-date pub-type="epub"><day>2</day><month>3</month><year>2005</year></pub-date><volume>42</volume><volume-id pub-id-type="other">42</volume-id><volume-id pub-id-type="other">42</volume-id><issue>3</issue><issue-id pub-id-type="other">jmedgenet;42/3</issue-id><issue-id pub-id-type="other">3</issue-id><issue-id pub-id-type="other">42/3</issue-id><fpage>271</fpage><permissions><copyright-statement>Copyright 2005 Journal of Medical Genetics</copyright-statement><copyright-year>2005</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-42-271.pdf"></self-uri><kwd-group kwd-group-type="KWD" xml:lang="en"><kwd>amelogenesis imperfecta</kwd><kwd>enamel</kwd><kwd>enamelysin</kwd><kwd>hypomaturation AI</kwd><kwd>MMP-20</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta</title></titleInfo><name type="personal"><namePart type="given">J-W</namePart><namePart type="family">Kim</namePart><affiliation>Department of Pediatric Dentistry, College of Dentistry & Dental Research Institute, Seoul National University, Seoul, Korea; and University of Michigan, School of Dentistry, Ann Arbor, MI, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J P</namePart><namePart type="family">Simmer</namePart><affiliation>Department of Biological and Material Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T C</namePart><namePart type="family">Hart</namePart><affiliation>National Institutes of Health, NIDCR</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P S</namePart><namePart type="family">Hart</namePart><affiliation>National Institutes of Health, NHGRI</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M D</namePart><namePart type="family">Ramaswami</namePart><affiliation>National Institutes of Health, NIDCR</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J D</namePart><namePart type="family">Bartlett</namePart><affiliation>Harvard-Forsyth Department of Cytokine Biology, The Forsyth Institute</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J C-C</namePart><namePart type="family">Hu</namePart><affiliation>Department of Pediatric Dentistry, University of Michigan School of Dentistry, Ann Arbor, MI, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-7474895G-0">other</genre><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2005-03</dateIssued><dateCreated encoding="w3cdtf">2005-03-02</dateCreated><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><note type="author-notes">Correspondence to:
Dr J C-C Hu
Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA; janhu@umich.edu</note><subject lang="en"><genre>KWD</genre><topic>amelogenesis imperfecta</topic><topic>enamel</topic><topic>enamelysin</topic><topic>hypomaturation AI</topic><topic>MMP-20</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</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><subject><genre>hwp-journal-coll</genre><topic>Immunology (including allergy)</topic></subject><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2005</date><detail type="volume"><caption>vol.</caption><number>42</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>271</start></extent></part></relatedItem><identifier type="istex">26F8205A60DDED3FA45BD1470B2A9825A901229C</identifier><identifier type="ark">ark:/67375/NVC-WP2T0390-G</identifier><identifier type="DOI">10.1136/jmg.2004.024505</identifier><identifier type="href">jmedgenet-42-271.pdf</identifier><identifier type="PMID">15744043</identifier><identifier type="local">0420271</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright 2005 Journal of Medical Genetics</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</recordContentSource><recordOrigin>Copyright 2005 Journal of Medical Genetics</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/26F8205A60DDED3FA45BD1470B2A9825A901229C/metadata/json</uri></json:item></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/document/26F8205A60DDED3FA45BD1470B2A9825A901229C/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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