Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutatio...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Dryja, T P, Hahn, L B, Cowley, G S, McGee, T L, Berson, E L
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1991
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC52716/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1833777/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.20.9370
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