Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Author: Murakami, Yoshiko; Thi Tuyet Mai Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmueller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M.
Tübinger Autor(en):
Haack, Tobias
Published in: American Journal of Human Genetics (2019), Bd. 105, H. 2, S. 384-394
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2019.05.019
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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