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Updated: May 13, 2025

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基因型/表型关系:137名患有PMM2-CDGG的患者的经验教训

Sander Pajusalu1,2, Mari-Anne Vals2,3, Mercedes Serrano4,5

  • 1Genetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.

Human mutation
|April 14, 2025
PubMed
概括

这项关于PMM2-Congenital Disorder of Glycosylation (PMM2-CDG) 的研究发现了新的变异,并将特定的PMM2基因突变与疾病严重程度和生化变化联系起来,从而改善了基因型/表型的理解.

关键词:
这就是PMM2的原因.葡萄糖化先天性疾病.遗传变异 遗传变异基因型/表型相关性遗传性代谢障碍 遗传性代谢障碍 遗传性代谢障碍自然历史,自然历史.胺转基因酶2-CDG 是一种

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