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Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

Identifieur interne : 001496 ( France/Analysis ); précédent : 001495; suivant : 001497

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

Auteurs : B. Mercier [France] ; W. Lissens [France] ; G. Novelli [France] ; L. Kalaydjieva [France] ; M. De Arce [France] ; N. Kapranov [France] ; N. Canki Klain [France] ; G. Lenoir [France] ; P. Chauveau [France] ; C. Lenaerts [France] ; G. Rault [France] ; S. Cashman [France] ; F. Sangiuolo [France] ; M. P. Audrézet [France] ; B. Dallapiccola [France] ; H. Guillermit [France] ; M. Bonduelle [France] ; I. Liebaers [France] ; I. Quéré [France] ; C. Verlingue [France] ; C. Férec [France]

Source :

RBID : ISTEX:BFF34C33F852DBC9FAEE0B002534BE13233BA601
Url:
DOI: 10.1006/geno.1993.1183


Affiliations:


Links toward previous steps (curation, corpus...)


Links to Exploration step

ISTEX:BFF34C33F852DBC9FAEE0B002534BE13233BA601

Le document en format XML

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<name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B." last="Dallapiccola">B. Dallapiccola</name>
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<wicri:regionArea>Centre de Biogénétique, CDTS, BP 454, 29275 Brest Cédex, France; Department of Medical Genetics, University Hospital VUB, Iaarbeeklaan 101, 1090 Brussels, Belgium, Human Genetics, "Tor Vergata" University of Roma, University of Urbino, and CSS Hospital, IRCCS, San Giovanni, Rotondo, Italy; Laboratory of Molecular Pathology, Institute of Obstetrics, Sofia, Bulgaria; Department of Genetics, Trinity College, Dublin 2, Ireland; CF Department, NRC of Medical Genetics, ul. Moskvorechie, 1 Moscow 115478, Russia; Univerzitetni Klinicni Center Ljubljana, Tozd Univerzitetna Ginekoloska Klinika, Ljubljana, Yugoslavia; Département de Pédiatrie, Hôpital des Enfants Malades Necker, Paris, France; Unité de Cytogénétique et de Génétique Médicale, Centre Hospitalier Général, Le Havre, France; Unité de Pédiatrie-Génétique, Centre Hospitalier Régional et Universitaire, Amiens, France; and Centre Hélio-Marin, Péharidy, Roscoff</wicri:regionArea>
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<name sortKey="Bonduelle, M" sort="Bonduelle, M" uniqKey="Bonduelle M" first="M." last="Bonduelle">M. Bonduelle</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biogénétique, CDTS, BP 454, 29275 Brest Cédex, France; Department of Medical Genetics, University Hospital VUB, Iaarbeeklaan 101, 1090 Brussels, Belgium, Human Genetics, "Tor Vergata" University of Roma, University of Urbino, and CSS Hospital, IRCCS, San Giovanni, Rotondo, Italy; Laboratory of Molecular Pathology, Institute of Obstetrics, Sofia, Bulgaria; Department of Genetics, Trinity College, Dublin 2, Ireland; CF Department, NRC of Medical Genetics, ul. Moskvorechie, 1 Moscow 115478, Russia; Univerzitetni Klinicni Center Ljubljana, Tozd Univerzitetna Ginekoloska Klinika, Ljubljana, Yugoslavia; Département de Pédiatrie, Hôpital des Enfants Malades Necker, Paris, France; Unité de Cytogénétique et de Génétique Médicale, Centre Hospitalier Général, Le Havre, France; Unité de Pédiatrie-Génétique, Centre Hospitalier Régional et Universitaire, Amiens, France; and Centre Hélio-Marin, Péharidy, Roscoff</wicri:regionArea>
<wicri:noRegion>Roscoff</wicri:noRegion>
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<name sortKey="Liebaers, I" sort="Liebaers, I" uniqKey="Liebaers I" first="I." last="Liebaers">I. Liebaers</name>
<affiliation wicri:level="1">
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biogénétique, CDTS, BP 454, 29275 Brest Cédex, France; Department of Medical Genetics, University Hospital VUB, Iaarbeeklaan 101, 1090 Brussels, Belgium, Human Genetics, "Tor Vergata" University of Roma, University of Urbino, and CSS Hospital, IRCCS, San Giovanni, Rotondo, Italy; Laboratory of Molecular Pathology, Institute of Obstetrics, Sofia, Bulgaria; Department of Genetics, Trinity College, Dublin 2, Ireland; CF Department, NRC of Medical Genetics, ul. Moskvorechie, 1 Moscow 115478, Russia; Univerzitetni Klinicni Center Ljubljana, Tozd Univerzitetna Ginekoloska Klinika, Ljubljana, Yugoslavia; Département de Pédiatrie, Hôpital des Enfants Malades Necker, Paris, France; Unité de Cytogénétique et de Génétique Médicale, Centre Hospitalier Général, Le Havre, France; Unité de Pédiatrie-Génétique, Centre Hospitalier Régional et Universitaire, Amiens, France; and Centre Hélio-Marin, Péharidy, Roscoff</wicri:regionArea>
<wicri:noRegion>Roscoff</wicri:noRegion>
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</affiliation>
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<name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quéré">I. Quéré</name>
<affiliation wicri:level="1">
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biogénétique, CDTS, BP 454, 29275 Brest Cédex, France; Department of Medical Genetics, University Hospital VUB, Iaarbeeklaan 101, 1090 Brussels, Belgium, Human Genetics, "Tor Vergata" University of Roma, University of Urbino, and CSS Hospital, IRCCS, San Giovanni, Rotondo, Italy; Laboratory of Molecular Pathology, Institute of Obstetrics, Sofia, Bulgaria; Department of Genetics, Trinity College, Dublin 2, Ireland; CF Department, NRC of Medical Genetics, ul. Moskvorechie, 1 Moscow 115478, Russia; Univerzitetni Klinicni Center Ljubljana, Tozd Univerzitetna Ginekoloska Klinika, Ljubljana, Yugoslavia; Département de Pédiatrie, Hôpital des Enfants Malades Necker, Paris, France; Unité de Cytogénétique et de Génétique Médicale, Centre Hospitalier Général, Le Havre, France; Unité de Pédiatrie-Génétique, Centre Hospitalier Régional et Universitaire, Amiens, France; and Centre Hélio-Marin, Péharidy, Roscoff</wicri:regionArea>
<wicri:noRegion>Roscoff</wicri:noRegion>
<wicri:noRegion>Roscoff</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Verlingue, C" sort="Verlingue, C" uniqKey="Verlingue C" first="C." last="Verlingue">C. Verlingue</name>
<affiliation wicri:level="1">
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biogénétique, CDTS, BP 454, 29275 Brest Cédex, France; Department of Medical Genetics, University Hospital VUB, Iaarbeeklaan 101, 1090 Brussels, Belgium, Human Genetics, "Tor Vergata" University of Roma, University of Urbino, and CSS Hospital, IRCCS, San Giovanni, Rotondo, Italy; Laboratory of Molecular Pathology, Institute of Obstetrics, Sofia, Bulgaria; Department of Genetics, Trinity College, Dublin 2, Ireland; CF Department, NRC of Medical Genetics, ul. Moskvorechie, 1 Moscow 115478, Russia; Univerzitetni Klinicni Center Ljubljana, Tozd Univerzitetna Ginekoloska Klinika, Ljubljana, Yugoslavia; Département de Pédiatrie, Hôpital des Enfants Malades Necker, Paris, France; Unité de Cytogénétique et de Génétique Médicale, Centre Hospitalier Général, Le Havre, France; Unité de Pédiatrie-Génétique, Centre Hospitalier Régional et Universitaire, Amiens, France; and Centre Hélio-Marin, Péharidy, Roscoff</wicri:regionArea>
<wicri:noRegion>Roscoff</wicri:noRegion>
<wicri:noRegion>Roscoff</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ferec, C" sort="Ferec, C" uniqKey="Ferec C" first="C." last="Férec">C. Férec</name>
<affiliation wicri:level="1">
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Biogénétique, CDTS, BP 454, 29275 Brest Cédex, France; Department of Medical Genetics, University Hospital VUB, Iaarbeeklaan 101, 1090 Brussels, Belgium, Human Genetics, "Tor Vergata" University of Roma, University of Urbino, and CSS Hospital, IRCCS, San Giovanni, Rotondo, Italy; Laboratory of Molecular Pathology, Institute of Obstetrics, Sofia, Bulgaria; Department of Genetics, Trinity College, Dublin 2, Ireland; CF Department, NRC of Medical Genetics, ul. Moskvorechie, 1 Moscow 115478, Russia; Univerzitetni Klinicni Center Ljubljana, Tozd Univerzitetna Ginekoloska Klinika, Ljubljana, Yugoslavia; Département de Pédiatrie, Hôpital des Enfants Malades Necker, Paris, France; Unité de Cytogénétique et de Génétique Médicale, Centre Hospitalier Général, Le Havre, France; Unité de Pédiatrie-Génétique, Centre Hospitalier Régional et Universitaire, Amiens, France; and Centre Hélio-Marin, Péharidy, Roscoff</wicri:regionArea>
<wicri:noRegion>Roscoff</wicri:noRegion>
<wicri:noRegion>Roscoff</wicri:noRegion>
</affiliation>
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<title level="j">Genomics</title>
<title level="j" type="abbrev">YGENO</title>
<idno type="ISSN">0888-7543</idno>
<imprint>
<publisher>ELSEVIER</publisher>
<date type="published" when="1993">1993</date>
<biblScope unit="volume">16</biblScope>
<biblScope unit="issue">1</biblScope>
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<idno type="ISSN">0888-7543</idno>
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<idno type="istex">BFF34C33F852DBC9FAEE0B002534BE13233BA601</idno>
<idno type="DOI">10.1006/geno.1993.1183</idno>
<idno type="PII">S0888-7543(83)71183-3</idno>
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<li>France</li>
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<noRegion>
<name sortKey="Mercier, B" sort="Mercier, B" uniqKey="Mercier B" first="B." last="Mercier">B. Mercier</name>
</noRegion>
<name sortKey="Audrezet, M P" sort="Audrezet, M P" uniqKey="Audrezet M" first="M. P." last="Audrézet">M. P. Audrézet</name>
<name sortKey="Bonduelle, M" sort="Bonduelle, M" uniqKey="Bonduelle M" first="M." last="Bonduelle">M. Bonduelle</name>
<name sortKey="Cashman, S" sort="Cashman, S" uniqKey="Cashman S" first="S." last="Cashman">S. Cashman</name>
<name sortKey="Chauveau, P" sort="Chauveau, P" uniqKey="Chauveau P" first="P." last="Chauveau">P. Chauveau</name>
<name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B." last="Dallapiccola">B. Dallapiccola</name>
<name sortKey="De Arce, M" sort="De Arce, M" uniqKey="De Arce M" first="M." last="De Arce">M. De Arce</name>
<name sortKey="Ferec, C" sort="Ferec, C" uniqKey="Ferec C" first="C." last="Férec">C. Férec</name>
<name sortKey="Guillermit, H" sort="Guillermit, H" uniqKey="Guillermit H" first="H." last="Guillermit">H. Guillermit</name>
<name sortKey="Kalaydjieva, L" sort="Kalaydjieva, L" uniqKey="Kalaydjieva L" first="L." last="Kalaydjieva">L. Kalaydjieva</name>
<name sortKey="Kapranov, N" sort="Kapranov, N" uniqKey="Kapranov N" first="N." last="Kapranov">N. Kapranov</name>
<name sortKey="Klain, N Canki" sort="Klain, N Canki" uniqKey="Klain N" first="N. Canki" last="Klain">N. Canki Klain</name>
<name sortKey="Lenaerts, C" sort="Lenaerts, C" uniqKey="Lenaerts C" first="C." last="Lenaerts">C. Lenaerts</name>
<name sortKey="Lenoir, G" sort="Lenoir, G" uniqKey="Lenoir G" first="G." last="Lenoir">G. Lenoir</name>
<name sortKey="Liebaers, I" sort="Liebaers, I" uniqKey="Liebaers I" first="I." last="Liebaers">I. Liebaers</name>
<name sortKey="Lissens, W" sort="Lissens, W" uniqKey="Lissens W" first="W." last="Lissens">W. Lissens</name>
<name sortKey="Novelli, G" sort="Novelli, G" uniqKey="Novelli G" first="G." last="Novelli">G. Novelli</name>
<name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quéré">I. Quéré</name>
<name sortKey="Rault, G" sort="Rault, G" uniqKey="Rault G" first="G." last="Rault">G. Rault</name>
<name sortKey="Sangiuolo, F" sort="Sangiuolo, F" uniqKey="Sangiuolo F" first="F." last="Sangiuolo">F. Sangiuolo</name>
<name sortKey="Verlingue, C" sort="Verlingue, C" uniqKey="Verlingue C" first="C." last="Verlingue">C. Verlingue</name>
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