Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

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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Bibliographic Details
Main Authors: Abigail T Fahim, Sara J Bowne, Lori S Sullivan, Kaylie D Webb, Jessica T Williams, Dianna K Wheaton, David G Birch, Stephen P Daiger
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21857984/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21857984/?tool=EBI

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