Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. The clinical consequences of RPGR mutations are highly varied, even among individuals with the same mutation: males demonstrate a wide range of clinical sever...

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Detalhes bibliográficos
Main Authors: Fahim, Abigail T., Bowne, Sara J., Sullivan, Lori S., Webb, Kaylie D., Williams, Jessica T., Wheaton, Dianna K., Birch, David G., Daiger, Stephen P.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155520/
https://ncbi.nlm.nih.gov/pubmed/21857984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0023021
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