Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses-Reference-Cited by-同舟云学术

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Published:2018-11-08 Issue:1 Volume:40 Page:31-35
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vaché Christel¹^ORCID,Torriano Simona²,Faugère Valérie¹,Erkilic Nejla²,Baux David¹,Garcia-Garcia Gema¹,Hamel Christian P.²³,Meunier Isabelle²³,Zanlonghi Xavier⁴,Koenig Michel¹,Kalatzis Vasiliki²,Roux Anne-Françoise¹

Affiliation:

1. Laboratoire de Génétique Moléculaire; CHU de Montpellier; Université de Montpellier; Montpellier France

2. Institut des Neurosciences de Montpellier; INSERM; Université de Montpellier; Montpellier France

3. Centre de Référence Maladies Sensorielles Génétiques; CHU de Montpellier; Université de Montpellier; Montpellier France

4. Centre de Compétence Maladie Rares; Clinique Pluridisciplinaire Jules Verne; Nantes France

Funder

Asociacion de Afectados por Coroideremia

Association Française contre les Myopathies

Fédération des Aveugles de France

France Choroïdérémie

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23671/fullpdf

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4. Novel non-contiguous exon duplication in choroideremia;Edwards;Clinical Genetics,2018

5. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy;Freund;Molecular Genetics & Genomic Medicine,2016

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