PMM2基因新变异致先天性糖基化障碍1例临床及基因分析
张媛, 陈光福, 刘文兰
Clinical and genetic analysis of a child with congenital disorder of glycosylation with new mutations of PMM2 gene
ZHANG Yuan, CHEN Guangfu, LIU Wenlan
中国中西医结合儿科学
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2020, (4): 357
-361
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DOI: 10.3969/j.issn.1674-3865.2020.04.022