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...

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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682214/
https://ncbi.nlm.nih.gov/pubmed/8317502
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