Bi-allelic truncating mutations in VWA1 cause neuromyopathy

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Author: Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.
Tübinger Autor(en):
Hengel, Holger
Grimmel, Mona
Admard, Jakob
Gazou, Anastasia
Sturm, Marc
Schöls, Ludger
Rieß, Olaf
Haack, Tobias
Published in: Brain (2021), Bd. 144, H. 2, S. 574-583
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awaa418
ISSN: 1460-2156
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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