Výsledky vyhledávání - "Anke H.A. den Engelsman-van Dijk"

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T-->C Mutation in Stargardt Disease

Autor: Carel B. Hoyng, Miriam Bauwens, Silvia Albert, Elfride De Baere, Angelique S.A. Goercharn-Ramlal, Klaus Rohrschneider, Anke H.A. den Engelsman-van Dijk, L. Ingeborgh van den Born, Nathalie M. Bax, Rob W.J. Collin, Riccardo Sangermano, Alejandro Garanto, Frans P.M. Cremers

Publikováno v: Ophthalmology, 123, 1375-85
Ophthalmology, 123, 6, pp. 1375-85

Item does not contain fulltext PURPOSE: To elucidate the functional effect of the ABCA4 variant c.5461-10T-->C, one of the most frequent variants associated with Stargardt disease (STGD1). DESIGN: Case series. PARTICIPANTS: Seventeen persons with STG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43c8d6fc0728fc907806ad4afa9abe3c
https://hdl.handle.net/2066/168048

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