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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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Guardat en:
Publicat a:Proc Natl Acad Sci U S A
Autors principals: 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
Idioma:Inglês
Publicat: National Academy of Sciences 1991
Matèries:
Research Article
Accés en línia: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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