Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus

Background: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees...

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Main Authors: Mohamed, M D, Topping, N C, Jafri, H, Raashed, Y, McKibbin, M A, Inglehearn, C F
Formato: Artigo
Idioma:Inglês
Publicado: Copyright 2003 British Journal of Ophthalmology 2003
Assuntos:
Clinical Science
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771622/
https://ncbi.nlm.nih.gov/pubmed/12642313
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