Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

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Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Author: Schmidt, Wolfgang M.; Rutledge, S. Lane; Schuele, Rebecca; Mayerhofer, Benjamin; Zuechner, Stephan; Boltshauser, Eugen; Bittner, Reginald E.
Tübinger Autor(en):
Schüle-Freyer, Rebecca
Published in: American Journal of Human Genetics (2015), Bd. 97, H. 6, S. 855-861
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2015.10.011
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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