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Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

Thirteen mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa (ADRP) have been produced by transfection of cloned cDNA into tissue culture cells. Three mutants [class I: Phe-45----Leu, Gln-344----termination (deletion of C-terminal positions 344-348), and Pro-347----Leu] resembl...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Sung, C H, Schneider, B G, Agarwal, N, Papermaster, D S, Nathans, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1991
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC52606/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1924344/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.19.8840
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