Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations...

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Veröffentlicht in:	Proc Natl Acad Sci U S A
Hauptverfasser:	Sung, C H, Davenport, C M, Hennessey, J C, Maumenee, I H, Jacobson, S G, Heckenlively, J R, Nowakowski, R, Fishman, G, Gouras, P, Nathans, J
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	National Academy of Sciences 1991
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC52109/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1862076/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.15.6481
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