Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin

Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects with congenital stationary night blindness. Eight of these mutations (gly(51)-to-ala, val(104)-to-ile, gly(106)-to-arg, arg(135)-to-gly, cys...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Macke, Jennifer P., Davenport, Carol M., Jacobson, Samuel G., Hennessey, Jill C., Gonzalez-Fernandez, Federico, Conway, Brian P., Heckenlively, John, Palmer, Rosalind, Maumenee, Irene H., Sieving, Paul, Gouras, Peter, Good, William, Nathans, Jeremy
Format: Artigo
Sprog:Inglês
Udgivet: 1993
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682214/
https://ncbi.nlm.nih.gov/pubmed/8317502
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker