Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa
Author:
Publisher
Elsevier BV
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference20 articles.
1. The molecular basis of human retinal and vitreoretinal diseases;Berger;Prog. Retin. Eye Res.,2010
2. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing;Bowne;Invest. Ophthalmol. Vis. Sci.,2011
3. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease;Branham;Invest. Ophthalmol. Vis. Sci.,2012
4. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa;Breuer;Am. J. Hum. Genet.,2002
5. Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability;Chang;Curr. Genom.,2011
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