Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase.

More than 70 mutations in the gene encoding the visual pigment rhodopsin have been identified in patients with autosomal dominant retinitis pigmentosa. Most of these mutations are thought to interfere with proper folding of the membrane protein. However, families with a severe phenotype of retinitis...

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Detaylı Bibliyografya

Yayımlandı:	Proc Natl Acad Sci U S A
Asıl Yazarlar:	Robinson, P R, Buczyłko, J, Ohguro, H, Palczewski, K
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	National Academy of Sciences 1994
Konular:	Research Article
Online Erişim:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44005/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8202499/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.12.5411
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