SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

DSpace Repository

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Author: Roeben, Benjamin; Schuele, Rebecca; Ruf, Susanne; Bender, Benjamin; Alhaddad, Bader; Benkert, Tanja; Meitinger, Thomas; Reich, Selina; Boehringer, Judith; Langhans, Claus-Dieter; Vaz, Frederic M.; Wortmann, Saskia B.; Marquardt, Thorsten; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Schoels, Ludger; Synofzik, Matthis
Tübinger Autor(en):
Röben, Benjamin
Ruf, Susanne
Bender, Benjamin
Benkert, Tanja
Reich, Selina
Synofzik, Matthis Benjamin
Schüle, Rebecca
Böhringer, Judith
Krägeloh-Mann, Ingeborg
Schöls, Ludger
Published in: Journal of Medical Genetics (2018), Bd. 55, H. 1, S. 39-47
Verlagsangabe: Bmj Publishing Group
Language: English
Full text: http://dx.doi.org/10.1136/jmedgenet-2017-104622
ISSN: 1468-6244
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
Show full item record

This item appears in the following Collection(s)