Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report.
Experimental And Therapeutic Medicine
Yin, Shaowei S; Gong, Liying L; Qiu, Hao H; Zhao, Yan Y; Zhang, Yan Y; Liu, Caixia C; Jiang, Hongkun H; Mao, Yan Y; Kong, Ling-Yin LY; Liang, Bo B; Lv, Yuan Y