Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

Mutations in the gene encoding the beta subunit of rod cGMP phosphodiesterase are known causes of photoreceptor degeneration in two animal models of retinitis pigmentosa, the rd (retinal degeneration) mouse and the Irish setter dog with rod/cone dysplasia. Here we report a screen of 92 unrelated pat...

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Bibliografiske detaljer

Udgivet i:	Proc Natl Acad Sci U S A
Principais autores:	McLaughlin, M E, Ehrhart, T L, Berson, E L, Dryja, T P
Format:	Artigo
Sprog:	Inglês
Udgivet:	National Academy of Sciences 1995
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC42143/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7724547/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.8.3249
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