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Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

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第一作者: Koehler,K.
作者单位: Division of Endocrinology and Diabetes, Children's Hospital, Technical University Dresden, Dresden [1] Mayo Clinic, Rochester, MN 55905, United States [2] University Children's Hospital, Münster 48149, Germany [3] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel, Day Hospitalization Unit [4] Helios Clinic, Krefeld 47805, Germany [5] Department of Biochemistry and Microbiology, Ghent University, De Pintelaan 185, Gent 9000, Belgium [6] Cologne Center for Genomics, University of Cologne, Cologne 50931, Germany, ATLAS Biolabs GmbH [7] Institute of Human Genetics, Jena University Hospital, Jena 07743, Germany [8] Cologne Center for Genomics, University of Cologne, Cologne 50931, Germany [9] Department of Neurohabilitation, Ullev?l Hospital, Oslo University Hospital, P.O. Box 4956, Nydalen [10] Columbia University Medical Center, New York, NY 10010, United States [11] Institute for Human Genetics, University Ulm, Ulm 89081, Germany [12] Osaka Medical Center, Research Institute for Maternal and Child Health, Osaka 594-1101, Japan [13] Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena 07747 [14] De Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium [15] Shifa International Hospital, Shifa Tameer-e-Millat University, Pitras Bukhari Road H-8/4 [16] Département de Génétique Médicale, H?pital A de Villeneuve, 34295 Montpellier, France [17] Department of Human Genetics and Molecular Biology, University of Health Sciences, Khayaban-e-Jamia [18] Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Beilinson [19]
发布时间 2018-07-27
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The American Journal of Human Genetics

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