De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

DSpace Repository

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Author: Synofzik, Matthis; Helbig, Katherine L.; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G. Bradley; Gburek-Augustat, Janina; Zuchner, Stephan; Kraegeloh-Mann, Ingeborg; Baets, Jonathan; de Jonghe, Peter; Bauer, Peter; Chen, S. R. Wayne; Schoels, Ludger; Schuele, Rebecca
Tübinger Autor(en):
Synofzik, Matthis Benjamin
Harmuth, Florian
Gburek-Augustat, Janina
Krägeloh-Mann, Ingeborg
Bauer, Peter
Schüle-Freyer, Rebecca
Published in: European Journal of Human Genetics (2018), Bd. 26, H. 11, S. 1623-1634
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/s41431-018-0206-3
ISSN: 1476-5438
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
Show full item record

This item appears in the following Collection(s)