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Identification of a Novel Homozygous Synthesis of Cytochrome C Oxidase 2 Variant in Siblings with Early‐onset Axonal Charcot‐Marie‐Tooth Disease

Andrea Gangfuss,Andreas Hentschel, Nina Rademacher,Albert Sickmann,Burkhard Stueve,Rita Horvath,Claudia Gross,Nicolai Kohlschmidt,Fabian Foerster,Angela Abicht,Anne Schaenzer,Ulrike Schara-Schmidt,Andreas Roos,Adela Della Marina

Human mutation（2022）

引用 2|浏览33
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关键词
axonal neuropathy,Charcot-Marie-Tooth disease,synthesis of cytochrome c oxidase 2 (SCO2),white blood cell proteomics
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