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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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Dryja, T P, Finn, J T, Peng, Y W, McGee, T L, Berson, E L, Yau, K W
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1995
Assuntos:	Research Article
Acesso em linha:	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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