A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype-Reference-Cited by-同舟云学术

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

Published:2013-10-04 Issue:10 Volume:8 Page:e76414
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Hauke Jan,Schild Andrea,Neugebauer Antje,Lappa Alexandra,Fricke Julia,Fauser Sascha,Rösler Stefanie,Pannes Andrea,Zarrinnam Dirk,Altmüller Janine,Motameny Susanne,Nürnberg Gudrun,Nürnberg Peter,Hahnen Eric,Beck Bodo B.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference50 articles.

1. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness;LE Allen;Br J Ophthalmol,2003

2. Variable expressivity in X-linked congenital stationary night blindness;WG Pearce;Can J Ophthalmol,1990

3. The cone dysfunction syndromes;M Michaelides;Br J Ophthalmol,2004

4. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis;M Michaelides;Surv Ophthalmol,2006

5. The molecular basis of human retinal and vitreoretinal diseases;W Berger;Prog Retin Eye Res,2010

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