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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Titre | Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus |
Type de publication | Journal Article |
Year of Publication | 2020 |
Auteurs | Olivier G, Bocquet B, Rivolta C, Andreo E, Muller A, Hamel C, Masurel A, Garcher CPCreuzot, Faivre L, Meunier IAnne, Manes G |
Journal | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
Volume | 61 |
Date Published | JUN |
Type of Article | Meeting Abstract |
ISSN | 0146-0404 |