Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Author: Bauwens, Miriam; Storch, Stephan; Weisschuh, Nicole; Ceuterick-de Groote, Chantal; De Rycke, Riet; Guillemyn, Brecht; De Jaegere, Sarah; Coppieters, Frauke; Van Coster, Rudy; Leroy, Bart P.; De Baere, Elfride
Tübinger Autor(en):
Weisschuh, Nicole
Published in: Clinical Genetics (2019), Bd. 97, H. 3, S. 426-436
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1111/cge.13673
ISSN: 1399-0004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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