Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

The RPGR (retinitis pigmentosa GTPase regulator) gene for RP3, the most frequent genetic subtype of X-linked retinitis pigmentosa (XLRP), has been shown to be mutated in 10%-15% of European XLRP patients. We have examined the RPGR gene for mutations in a cohort of 80 affected males from apparently u...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Buraczynska, M, Wu, W, Fujita, R, Buraczynska, K, Phelps, E, Andréasson, S, Bennett, J, Birch, D G, Fishman, G A, Hoffman, D R, Inana, G, Jacobson, S G, Musarella, M A, Sieving, P A, Swaroop, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716085/
https://ncbi.nlm.nih.gov/pubmed/9399904
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados