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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: Elsevier 2024-06-01
Цуврал:Molecular Genetics and Metabolism Reports
Нөхцлүүд:
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2
Cerebellar dysplasia
Liver injury
Онлайн хандалт:http://www.sciencedirect.com/science/article/pii/S221442692400020X

Интернэт

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

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