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

Journal: American Journal of Human Genetics

Published: 2019-06-25

DOI: 10.1016/j.ajhg.2019.05.019

Affiliations: 28

Authors: 45

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Institutions Share
CHU Sainte-Justine Research Center, Canada 0.13
Faculty / Graduate School of Medicine, YCU, Japan 0.09
Department of Genetics, KFSH&RC, Saudi Arabia 0.07
Royal Devon and Exeter NHS Foundation Trust, United Kingdom (UK) 0.07
School of Medicine, Iwate Medical University, Japan 0.07
Institute of Medical Genetics and Genomics, SGRH, India 0.07
Yabumoto Department of Intractable Disease Research, Osaka University, Japan 0.04
Department of Molecular and Human Genetics, BCM, United States of America (USA) 0.04
UPMC CHP Division of Medical Genetics, United States of America (USA) 0.04
Latvian Biomedical Research and Study Centre (BMC), Latvia 0.04
Centogene AG, Germany 0.02
Department of Clinical Genetics, Erasmus MC, Netherlands 0.02
Leicester Royal Infirmary, UHL, United Kingdom (UK) 0.02
Dr. von Hauner Children's Hospital, LMU, Germany 0.02
Children's Clinical University Hospital, Latvia 0.02
Department of Biology and Microbiology, RSU, Latvia 0.02
Cologne Center for Genomics (CCG), UoC, Germany 0.02
Center for Medical Genetics, UA, Belgium 0.02
CHU de Québec, UL, Canada 0.02
Nottingham University Hospitals NHS Trust (NUH), United Kingdom (UK) 0.02
University Hospital Bonn (UKB), Uni Bonn, Germany 0.02
Institute for Genomic Statistic and Bioinformatics (IGSB), Uni Bonn, Germany 0.02
Center for Molecular Medicine Cologne (CMMC), UoC, Germany 0.01
Institute of Human Genetics, UoC, Germany 0.01
Institute of Medical Genetics and Applied Genomics, Uni Tübingen, Germany 0.01
Department of Pediatrics, CHU Sainte-Justine, Canada 0.01
TUM-HMGU Institute of Human Genetics (IHG), Germany 0.01
CHU Sainte-Justine, Canada 0.01