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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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1991
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC52109/
https://ncbi.nlm.nih.gov/pubmed/1862076
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