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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Mohamed, M D, Topping, N C, Jafri, H, Raashed, Y, McKibbin, M A, Inglehearn, C F
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Copyright 2003 British Journal of Ophthalmology 2003
Gaiak:
Clinical Science
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771622/
https://ncbi.nlm.nih.gov/pubmed/12642313
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