Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease1 and is the most severe inherited retinopathy with the earliest age of onset2. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision...

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Detalhes bibliográficos
Main Authors: Sohocki, Melanie M., Bowne, Sara J., Sullivan, Lori S., Blackshaw, Seth, Cepko, Constance L., Payne, Annette M., Bhattacharya, Shomi S., Khaliq, Shagufta, Mehdi, S. Qasim, Birch, David G., Harrison, Wilbur R., Elder, Frederick F.B., Heckenlively, John R., Daiger, Stephen P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2000
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2796558/
https://ncbi.nlm.nih.gov/pubmed/10927016
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