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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Veröffentlicht in:	Proc Natl Acad Sci U S A
Hauptverfasser:	McLaughlin, M E, Ehrhart, T L, Berson, E L, Dryja, T P
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	National Academy of Sciences 1995
Schlagworte:	Research Article
Online-Zugang:	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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