Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8

Cécilia G Maubaret, Veronika Vaclavik, Rajarshi Mukhopadhyay, Naushin H Waseem, Amanda Churchill, Graham E Holder, Anthony T Moore, Shomi S Bhattacharya, Andrew R Webster

Research output: Contribution to journalArticle (Academic Journal)peer-review

28 Citations (Scopus)

Abstract

The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8.
Translated title of the contributionAutosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8
Original languageEnglish
Pages (from-to)9304 - 9309
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume52
Issue number13
DOIs
Publication statusPublished - Dec 2011

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