Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-Glycosylation
Florian Erger,Rajindra Aryal,Björn Reusch,Yasuyuki Matsumoto,Robert Meyer,Junwei Zeng,Cordula Knopp,Maxence Noel,Andrea Wenzel,Stefan Kohl,Nikolai Tschernoster,Gunter Rappl,Jutta Schröder-Braunstein,Felix Seibert,Holger Thiele,Martin Häusler,Lutz Weber,Maike Büttner-Herold,Miriam Elbracht, Sandra Cummings,Janine Altmüller,Sandra Habbig,Richard Cummings,Bodo Beck Research Square (Research Square)（2022）
关键词
multisystemic chaperonopathy,global deficiency,mutation,o-glycosylation
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