Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hy...

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Hlavní autoři: Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma
Médium: Článek
Jazyk:English
Vydáno: Elsevier 2024-06-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2
Cerebellar dysplasia
Liver injury
On-line přístup:http://www.sciencedirect.com/science/article/pii/S221442692400020X

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http://www.sciencedirect.com/science/article/pii/S221442692400020X

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