Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

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TitreNovel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus
Type de publicationJournal Article
Year of Publication2020
AuteursOlivier G, Bocquet B, Rivolta C, Andreo E, Muller A, Hamel C, Masurel A, Garcher CPCreuzot, Faivre L, Meunier IAnne, Manes G
JournalINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Volume61
Date PublishedJUN
Type of ArticleMeeting Abstract
ISSN0146-0404