Gene discovery and prevalence in inherited retinal dystrophies-Reference-Cited by-同舟云学术

Gene discovery and prevalence in inherited retinal dystrophies

Published:2014-03 Issue:3 Volume:337 Page:160-166
ISSN:1631-0691
Container-title:Comptes Rendus Biologies
language:en
Short-container-title:Comptes Rendus Biologies

Author:

Hamel Christian P.

Publisher

Elsevier BV

Subject

General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference25 articles.

1. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management;Bocquet;Ophthalmic Epidemiol.,2013

2. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro;Hamel;J. Biol. Chem.,1993

3. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3;Hamel;Genomics,1994

4. Mutations in RPE65 cause Leber's congenital amaurosis;Marlhens;Nat. Genet.,1997

5. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene;Marlhens;Eur. J. Hum. Genet.,1998

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