Mutations of DNAI1 in primary ciliary dyskinesia : Evidence of founder effect in a common mutation
Identifieur interne : 009D61 ( Main/Exploration ); précédent : 009D60; suivant : 009D62Mutations of DNAI1 in primary ciliary dyskinesia : Evidence of founder effect in a common mutation
Auteurs : Maimoona A. Zariwala [États-Unis, France, Allemagne, Royaume-Uni, Australie, Italie] ; Margaret W. Leigh ; Franck Ceppa ; Marcus P. Kennedy ; Peadar G. Noone ; Johnny L. Carson ; Milan J. Hazucha ; Adriana Lori ; Judit Horvath ; Heike Olbrich ; Niki T. Loges ; Anne-Marie Bridoux ; Gaëlle Pennarun ; Bénédicte Duriez ; Estelle Escudier ; Hannah M. Mitchison ; Rahul Chodhari ; Eddie M. K. Chung ; Lucy C. Morgan ; Robbert U. De Longh ; Jonathan Rutland ; Ugo Pradal ; Heymut Omran ; Serge Amselem ; Michael R. KnowlesSource :
- American journal of respiratory and critical care medicine [ 1073-449X ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Rationale: Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAHS encoding outer dynein arm (ODA) proteins of cilia. Objectives: We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported IVS1 +2_3insT (219+3insT) mutation represents a "founder" or "hot spot" mutation. Methods: Patients with PCD from 179 unrelated families were studied. Exclusion mapping showed no linkage to DNAI1 for 13 families; the entire coding region was sequenced in a patient from the remaining 166 families. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed on nasal epithelial RNA in 14 families. Results: Mutations in DNAI1 including 12 novel mutations were identified in 16 of 179 (9%) families; 14 harbored biallelic mutations. Deep intronic splice mutations were not identified by reverse transcriptase-polymerase chain reaction. The prevalence of mutations in families with defined ODA defect was 13%; no mutations were found in patients without a defined ODA defect. The previously reported IVS1 +2_3insT mutation accounted for 57% (17/30) of mutant alleles, and marker analysis indicates a common founder for this mutation. Seven mutations occurred in three exons (13,16, and 17); taken together with previous reports, these three exons are emerging as mutation clusters harboring 29% (12/42) of mutant alleles. Conclusions: A total of 10% of patients with PCD are estimated to harbor mutations in DNAI1; most occur as a common founder IVS1 +2_3insT or in exons 13, 16, and 17. This information is useful for establishing a clinical molecular genetic test for PCD.
Affiliations:
- Allemagne, Australie, France, Italie, Royaume-Uni, États-Unis
- Angleterre, Bade-Wurtemberg, Caroline du Nord, District de Fribourg-en-Brisgau, Grand Londres, Nouvelle-Galles du Sud, Victoria (État), Île-de-France
- Chapel Hill (Caroline du Nord), Créteil, Fribourg-en-Brisgau, Londres, Melbourne, Sydney
- Université de Caroline du Nord à Chapel Hill, Université de Melbourne
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 004100
- to stream PascalFrancis, to step Curation: 001F95
- to stream PascalFrancis, to step Checkpoint: 003E40
- to stream Main, to step Merge: 00A862
- to stream Main, to step Curation: 009D61
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Mutations of DNAI1 in primary ciliary dyskinesia : Evidence of founder effect in a common mutation</title>
<author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>University of North Carolina at Chapel Hill</s1>
<s2>Chapel Hill, North Carolina</s2>
<s3>USA</s3>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Institut de la Santé et de la Recherche Médicale</s1>
<s2>Créteil</s2>
<s3>FRA</s3>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg</s1>
<s2>Freiburg</s2>
<s3>DEU</s3>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Fribourg-en-Brisgau</region>
<settlement type="city">Fribourg-en-Brisgau</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Royal Free and University College Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Concord Hospital</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Anatomy & Cell Biology, University of Melbourne</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Cystic Fibrosis Center</s1>
<s2>Verona</s2>
<s3>ITA</s3>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cystic Fibrosis Center</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
</author>
<author><name sortKey="Ceppa, Franck" sort="Ceppa, Franck" uniqKey="Ceppa F" first="Franck" last="Ceppa">Franck Ceppa</name>
</author>
<author><name sortKey="Kennedy, Marcus P" sort="Kennedy, Marcus P" uniqKey="Kennedy M" first="Marcus P." last="Kennedy">Marcus P. Kennedy</name>
</author>
<author><name sortKey="Noone, Peadar G" sort="Noone, Peadar G" uniqKey="Noone P" first="Peadar G." last="Noone">Peadar G. Noone</name>
</author>
<author><name sortKey="Carson, Johnny L" sort="Carson, Johnny L" uniqKey="Carson J" first="Johnny L." last="Carson">Johnny L. Carson</name>
</author>
<author><name sortKey="Hazucha, Milan J" sort="Hazucha, Milan J" uniqKey="Hazucha M" first="Milan J." last="Hazucha">Milan J. Hazucha</name>
</author>
<author><name sortKey="Lori, Adriana" sort="Lori, Adriana" uniqKey="Lori A" first="Adriana" last="Lori">Adriana Lori</name>
</author>
<author><name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name>
</author>
<author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
</author>
<author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
</author>
<author><name sortKey="Bridoux, Anne Marie" sort="Bridoux, Anne Marie" uniqKey="Bridoux A" first="Anne-Marie" last="Bridoux">Anne-Marie Bridoux</name>
</author>
<author><name sortKey="Pennarun, Gaelle" sort="Pennarun, Gaelle" uniqKey="Pennarun G" first="Gaëlle" last="Pennarun">Gaëlle Pennarun</name>
</author>
<author><name sortKey="Duriez, Benedicte" sort="Duriez, Benedicte" uniqKey="Duriez B" first="Bénédicte" last="Duriez">Bénédicte Duriez</name>
</author>
<author><name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name>
</author>
<author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
</author>
<author><name sortKey="Chodhari, Rahul" sort="Chodhari, Rahul" uniqKey="Chodhari R" first="Rahul" last="Chodhari">Rahul Chodhari</name>
</author>
<author><name sortKey="Chung, Eddie M K" sort="Chung, Eddie M K" uniqKey="Chung E" first="Eddie M. K." last="Chung">Eddie M. K. Chung</name>
</author>
<author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
</author>
<author><name sortKey="De Longh, Robbert U" sort="De Longh, Robbert U" uniqKey="De Longh R" first="Robbert U." last="De Longh">Robbert U. De Longh</name>
</author>
<author><name sortKey="Rutland, Jonathan" sort="Rutland, Jonathan" uniqKey="Rutland J" first="Jonathan" last="Rutland">Jonathan Rutland</name>
</author>
<author><name sortKey="Pradal, Ugo" sort="Pradal, Ugo" uniqKey="Pradal U" first="Ugo" last="Pradal">Ugo Pradal</name>
</author>
<author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
</author>
<author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0486548</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0486548 INIST</idno>
<idno type="RBID">Pascal:06-0486548</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">004100</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001F95</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">003E40</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003E40</idno>
<idno type="wicri:doubleKey">1073-449X:2006:Zariwala M:mutations:of:dnai</idno>
<idno type="wicri:Area/Main/Merge">00A862</idno>
<idno type="wicri:Area/Main/Curation">009D61</idno>
<idno type="wicri:Area/Main/Exploration">009D61</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations of DNAI1 in primary ciliary dyskinesia : Evidence of founder effect in a common mutation</title>
<author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>University of North Carolina at Chapel Hill</s1>
<s2>Chapel Hill, North Carolina</s2>
<s3>USA</s3>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
<settlement type="city">Chapel Hill (Caroline du Nord)</settlement>
</placeName>
<orgName type="university">Université de Caroline du Nord à Chapel Hill</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Institut de la Santé et de la Recherche Médicale</s1>
<s2>Créteil</s2>
<s3>FRA</s3>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg</s1>
<s2>Freiburg</s2>
<s3>DEU</s3>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Fribourg-en-Brisgau</region>
<settlement type="city">Fribourg-en-Brisgau</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Royal Free and University College Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Concord Hospital</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Anatomy & Cell Biology, University of Melbourne</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Cystic Fibrosis Center</s1>
<s2>Verona</s2>
<s3>ITA</s3>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cystic Fibrosis Center</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
</author>
<author><name sortKey="Ceppa, Franck" sort="Ceppa, Franck" uniqKey="Ceppa F" first="Franck" last="Ceppa">Franck Ceppa</name>
</author>
<author><name sortKey="Kennedy, Marcus P" sort="Kennedy, Marcus P" uniqKey="Kennedy M" first="Marcus P." last="Kennedy">Marcus P. Kennedy</name>
</author>
<author><name sortKey="Noone, Peadar G" sort="Noone, Peadar G" uniqKey="Noone P" first="Peadar G." last="Noone">Peadar G. Noone</name>
</author>
<author><name sortKey="Carson, Johnny L" sort="Carson, Johnny L" uniqKey="Carson J" first="Johnny L." last="Carson">Johnny L. Carson</name>
</author>
<author><name sortKey="Hazucha, Milan J" sort="Hazucha, Milan J" uniqKey="Hazucha M" first="Milan J." last="Hazucha">Milan J. Hazucha</name>
</author>
<author><name sortKey="Lori, Adriana" sort="Lori, Adriana" uniqKey="Lori A" first="Adriana" last="Lori">Adriana Lori</name>
</author>
<author><name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name>
</author>
<author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
</author>
<author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
</author>
<author><name sortKey="Bridoux, Anne Marie" sort="Bridoux, Anne Marie" uniqKey="Bridoux A" first="Anne-Marie" last="Bridoux">Anne-Marie Bridoux</name>
</author>
<author><name sortKey="Pennarun, Gaelle" sort="Pennarun, Gaelle" uniqKey="Pennarun G" first="Gaëlle" last="Pennarun">Gaëlle Pennarun</name>
</author>
<author><name sortKey="Duriez, Benedicte" sort="Duriez, Benedicte" uniqKey="Duriez B" first="Bénédicte" last="Duriez">Bénédicte Duriez</name>
</author>
<author><name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name>
</author>
<author><name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
</author>
<author><name sortKey="Chodhari, Rahul" sort="Chodhari, Rahul" uniqKey="Chodhari R" first="Rahul" last="Chodhari">Rahul Chodhari</name>
</author>
<author><name sortKey="Chung, Eddie M K" sort="Chung, Eddie M K" uniqKey="Chung E" first="Eddie M. K." last="Chung">Eddie M. K. Chung</name>
</author>
<author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
</author>
<author><name sortKey="De Longh, Robbert U" sort="De Longh, Robbert U" uniqKey="De Longh R" first="Robbert U." last="De Longh">Robbert U. De Longh</name>
</author>
<author><name sortKey="Rutland, Jonathan" sort="Rutland, Jonathan" uniqKey="Rutland J" first="Jonathan" last="Rutland">Jonathan Rutland</name>
</author>
<author><name sortKey="Pradal, Ugo" sort="Pradal, Ugo" uniqKey="Pradal U" first="Ugo" last="Pradal">Ugo Pradal</name>
</author>
<author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
</author>
<author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
</author>
</analytic>
<series><title level="j" type="main">American journal of respiratory and critical care medicine</title>
<title level="j" type="abbreviated">Am. j. respir. crit. care med.</title>
<idno type="ISSN">1073-449X</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of respiratory and critical care medicine</title>
<title level="j" type="abbreviated">Am. j. respir. crit. care med.</title>
<idno type="ISSN">1073-449X</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cilia</term>
<term>Dextrocardia</term>
<term>Dynein ATPase</term>
<term>Dyskinesia</term>
<term>Intensive care</term>
<term>Mutation</term>
<term>Resuscitation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dyskinésie</term>
<term>Dextrocardie</term>
<term>Réanimation</term>
<term>Soin intensif</term>
<term>Mutation</term>
<term>Cil vibratile</term>
<term>Dynein ATPase</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Rationale: Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAHS encoding outer dynein arm (ODA) proteins of cilia. Objectives: We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported IVS1 +2_3insT (219+3insT) mutation represents a "founder" or "hot spot" mutation. Methods: Patients with PCD from 179 unrelated families were studied. Exclusion mapping showed no linkage to DNAI1 for 13 families; the entire coding region was sequenced in a patient from the remaining 166 families. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed on nasal epithelial RNA in 14 families. Results: Mutations in DNAI1 including 12 novel mutations were identified in 16 of 179 (9%) families; 14 harbored biallelic mutations. Deep intronic splice mutations were not identified by reverse transcriptase-polymerase chain reaction. The prevalence of mutations in families with defined ODA defect was 13%; no mutations were found in patients without a defined ODA defect. The previously reported IVS1 +2_3insT mutation accounted for 57% (17/30) of mutant alleles, and marker analysis indicates a common founder for this mutation. Seven mutations occurred in three exons (13,16, and 17); taken together with previous reports, these three exons are emerging as mutation clusters harboring 29% (12/42) of mutant alleles. Conclusions: A total of 10% of patients with PCD are estimated to harbor mutations in DNAI1; most occur as a common founder IVS1 +2_3insT or in exons 13, 16, and 17. This information is useful for establishing a clinical molecular genetic test for PCD.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Bade-Wurtemberg</li>
<li>Caroline du Nord</li>
<li>District de Fribourg-en-Brisgau</li>
<li>Grand Londres</li>
<li>Nouvelle-Galles du Sud</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Chapel Hill (Caroline du Nord)</li>
<li>Créteil</li>
<li>Fribourg-en-Brisgau</li>
<li>Londres</li>
<li>Melbourne</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université de Caroline du Nord à Chapel Hill</li>
<li>Université de Melbourne</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<name sortKey="Bridoux, Anne Marie" sort="Bridoux, Anne Marie" uniqKey="Bridoux A" first="Anne-Marie" last="Bridoux">Anne-Marie Bridoux</name>
<name sortKey="Carson, Johnny L" sort="Carson, Johnny L" uniqKey="Carson J" first="Johnny L." last="Carson">Johnny L. Carson</name>
<name sortKey="Ceppa, Franck" sort="Ceppa, Franck" uniqKey="Ceppa F" first="Franck" last="Ceppa">Franck Ceppa</name>
<name sortKey="Chodhari, Rahul" sort="Chodhari, Rahul" uniqKey="Chodhari R" first="Rahul" last="Chodhari">Rahul Chodhari</name>
<name sortKey="Chung, Eddie M K" sort="Chung, Eddie M K" uniqKey="Chung E" first="Eddie M. K." last="Chung">Eddie M. K. Chung</name>
<name sortKey="De Longh, Robbert U" sort="De Longh, Robbert U" uniqKey="De Longh R" first="Robbert U." last="De Longh">Robbert U. De Longh</name>
<name sortKey="Duriez, Benedicte" sort="Duriez, Benedicte" uniqKey="Duriez B" first="Bénédicte" last="Duriez">Bénédicte Duriez</name>
<name sortKey="Escudier, Estelle" sort="Escudier, Estelle" uniqKey="Escudier E" first="Estelle" last="Escudier">Estelle Escudier</name>
<name sortKey="Hazucha, Milan J" sort="Hazucha, Milan J" uniqKey="Hazucha M" first="Milan J." last="Hazucha">Milan J. Hazucha</name>
<name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name>
<name sortKey="Kennedy, Marcus P" sort="Kennedy, Marcus P" uniqKey="Kennedy M" first="Marcus P." last="Kennedy">Marcus P. Kennedy</name>
<name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name>
<name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name>
<name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name>
<name sortKey="Lori, Adriana" sort="Lori, Adriana" uniqKey="Lori A" first="Adriana" last="Lori">Adriana Lori</name>
<name sortKey="Mitchison, Hannah M" sort="Mitchison, Hannah M" uniqKey="Mitchison H" first="Hannah M." last="Mitchison">Hannah M. Mitchison</name>
<name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name>
<name sortKey="Noone, Peadar G" sort="Noone, Peadar G" uniqKey="Noone P" first="Peadar G." last="Noone">Peadar G. Noone</name>
<name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name>
<name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name>
<name sortKey="Pennarun, Gaelle" sort="Pennarun, Gaelle" uniqKey="Pennarun G" first="Gaëlle" last="Pennarun">Gaëlle Pennarun</name>
<name sortKey="Pradal, Ugo" sort="Pradal, Ugo" uniqKey="Pradal U" first="Ugo" last="Pradal">Ugo Pradal</name>
<name sortKey="Rutland, Jonathan" sort="Rutland, Jonathan" uniqKey="Rutland J" first="Jonathan" last="Rutland">Jonathan Rutland</name>
</noCountry>
<country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</region>
</country>
<country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</region>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</region>
</country>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</region>
<name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</country>
<country name="Italie"><noRegion><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009D61 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 009D61 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Asie |area= AustralieFrV1 |flux= Main |étape= Exploration |type= RBID |clé= Pascal:06-0486548 |texte= Mutations of DNAI1 in primary ciliary dyskinesia : Evidence of founder effect in a common mutation }}
This area was generated with Dilib version V0.6.33. |