SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient
Autor: | Johnsen, Christin, Tabatadze, Nazi, Radenkovic, Silvia, Botzo, Grace, Kuschel, Bryce, Melikishvili, Gia, Morava, Eva |
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Zdroj: | In Molecular Genetics and Metabolism July 2024 142(3) |
Databáze: | ScienceDirect |
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