Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)

Li, GQ; Xu, YF; Hu, XY; Li, N; Yao, RE; Yu, TT; Wang, XM; Guo, WW; Wang, J

Guo, WW; Wang, J (reprint author), Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, 1678 Dongfang Rd, Shanghai 200127, Peoples R China.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019; 62 (1): 44

Abstract

COG6-CDG is a rare autosomal recessive disease of congenital disorders of glycosylation (CDG) caused by deficiency of subunit 6 of the conserved oligo......

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