THE RP2 PHENOTYPE AND PATHOGENETIC CORRELATIONS IN X-LINKED RETINITIS PIGMENTOSA

OBJECTIVE: To assess the phenotype of X-linked retinitis pigmentosa (XLRP) patients with RP2 mutations and correlate the findings with their genotype. CLINICAL RELEVANCE: An identifiable phenotype for RP2-XLRP aids in clinical diagnosis and targeted genetic screening. METHODS: Over 600 XLRP patients...

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Hauptverfasser: Jayasundera, Thiran, Branham, Kari EH, Othman, Mohammad, Rhoades, William R, Karoukis, Athanasios J, Khanna, Hemant, Swaroop, Anand, Heckenlively, John R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3392190/
https://ncbi.nlm.nih.gov/pubmed/20625056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2010.122
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