Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

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Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Author: Soehn, Anne S.; Rattay, Tim W.; Beck-Woedl, Stefanie; Schaeferhoff, Karin; Monk, David; Doebler-Neumann, Marion; Hoertnagel, Konstanze; Schluter, Agatha; Ruiz, Montserrat; Pujol, Aurora; Zuchner, Stephan; Riess, Olaf; Schule, Rebecca; Bauer, Peter; Schoels, Ludger
Tübinger Autor(en):
Söhn, Anne
Rattay, Tim Wilfried
Beck-Wödl, Stefanie
Schäferhoff, Karin
Döbler-Neumann, Marion
Rieß, Olaf
Schüle-Freyer, Rebecca
Bauer, Peter
Schöls, Ludger
Published in: Neurology (2016), Bd. 87, H. 2, S. 186-191
Verlagsangabe: Lippincott Williams & Wilkins
Language: English
Full text: http://dx.doi.org/10.1212/WNL.0000000000002843
ISSN: 1526-632X
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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