A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1

Aim: To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. Methods: Eight members of a four generation, non-consanguineous British family were examined clinically and underwent electrophysiological testing, automated dark ad...

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Detalhes bibliográficos
Main Authors: Michaelides, M, Holder, G E, Hunt, D M, Fitzke, F W, Bird, A C, Moore, A T
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright 2005 British Journal of Ophthalmology 2005
Assuntos:
Clinical Science - Extended Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1772528/
https://ncbi.nlm.nih.gov/pubmed/15665353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2004.050773
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