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

Author:

Murakami Yoshiko,Nguyen Thi Tuyet Mai,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,Altmüller 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 María Eugenia,Hashem Mais O.,Aldhalaan Hesham M.,Alkuraya Fowzan S.,Miyatake Satoko,Matsumoto Naomichi,Krawitz Peter M.,Rossignol Elsa,Kinoshita Taroh,Campeau Philippe M.

Funder

grant for Research on Measures for Intractable Diseases

grant for Comprehensive Research on Disability Health and Welfare

Strategic Research Program for Brain Science

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Ministry of Health, Labor and Welfare

Takeda Science Foundation

Canadian Institutes of Health Research

Savoy Foundation

German Bundesministerium für Bildung und Forschung

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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