Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

Mutations in the genes encoding two proteins of the retinal rod phototransduction cascade, opsin and the beta subunit of rod cGMP phosphodiesterase, cause retinitis pigmentosa (RP) in some families. Here we report defects in a third member of this biochemical pathway in still other patients with thi...

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Publicado en:	Proc Natl Acad Sci U S A
Autores principales:	Dryja, T P, Finn, J T, Peng, Y W, McGee, T L, Berson, E L, Yau, K W
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	National Academy of Sciences 1995
Materias:	Research Article
Acceso en línea:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC40759/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7479749/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.22.10177
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