Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature

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Bibliographic Details
Published inMolecular genetics and metabolism Vol. 136; no. 4; pp. 274 - 281
Main Authors Himmelreich, Nastassja, Dimitrov, Bianca, Zielonka, Matthias, Hüllen, Andreas, Hoffmann, Georg Friedrich, Juenger, Hendrik, Müller, Herbert, Lorenz, Imke, Busse, Birgit, Marschall, Christoph, Schlüter, Gregor, Thiel, Christian
Format Journal Article
LanguageEnglish
Published 01.08.2022
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Bibliography:ObjectType-Article-2
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ObjectType-Feature-3
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ObjectType-Review-1
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2022.06.005