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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Published in | Molecular genetics and metabolism Vol. 136; no. 4; pp. 274 - 281 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
01.08.2022
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Online Access | Get full text |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
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ISSN: | 1096-7192 1096-7206 |
DOI: | 10.1016/j.ymgme.2022.06.005 |