Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams

Zhao, PW; Peng, XH; Luo, SK; Huang, YF; Tan, L; Shao, JB; He, XL

He, XL (corresponding author), Precis Med Lab, Wuhan 430016, Peoples R China.; Shao, JB (corresponding author), Huazhong Univ Sci & Technol, Dept CT&MRI, Wuhan Maternal & Child Healthcare Hosp, Wuhan Childrens Hosp,Tongji Med Coll, Wuhan 430016, Peoples R China.

NEUROGENETICS, 2020; 21 (2): 97

Abstract

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of disorders caused by the defects in the synthesis and processing ......

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