Deletions OverlappingVCANExon 8 Are New Molecular Defects for Wagner Disease-Reference-Cited by-同舟云学术

Deletions OverlappingVCANExon 8 Are New Molecular Defects for Wagner Disease

Published:2016-11-23 Issue:1 Volume:38 Page:43-47
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Burin-des-Roziers Cyril¹,Rothschild Pierre-Raphael²,Layet Valérie³,Chen Jian-Min⁴,Ghiotti Tiffany⁵,Leroux Céline⁵,Cremers Frans P. M.⁶,Brézin Antoine P.²,Valleix Sophie¹⁷

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale; Unité Mixte de Recherche 1163; Institut Imagine; Laboratoire de Génétique Ophtalmologique; Université Paris Descartes; Sorbonne Paris Cité Paris France

2. Service d'ophtalmologie; Groupe Hospitalier Cochin-Hôtel-Dieu; Assistance Publique-Hôpitaux de Paris; Université Paris Descartes; Sorbonne Paris Cité Paris France

3. Service de Génétique Médicale; Hôpital Jacques Monod; Le Havre France

4. Institut National de la Santé et de la Recherche Médicale (INSERM); France Faculté de Médecine et des Sciences de la Santé; Université de Bretagne Occidentale (UBO); France Etablissement Français du sang (EFS)-Bretagne Brest France

5. Service de Biochimie et de Génétique Moléculaire; Groupe Hospitalier Cochin-Hôtel-Dieu; Assistance Publique-Hôpitaux de Paris Paris France

6. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

7. Laboratoire de Génétique Moléculaire, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris; Université Paris Descartes; Sorbonne Paris Cité Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features;Brézin;Mol Vis,2011

2. Genomic rearrangements in inherited disease and cancer;Chen;Semin Cancer Biol,2010

3. Complex multiple-nucleotide substitution mutations causing human inherited disease reveal novel insights into the action of translesion synthesis DNA polymerases;Chen;Hum Mutat,2015

4. Repair of double-strand breaks by end joining;Chiruvella;Cold Spring Harb Perspect Biol,2013

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