1个非酮性高甘氨酸血症家系的临床和分子遗传学分析
Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family

DOI: 10.7499/j.issn.1008-8830.2017.03.003

Keywords: 非酮性高甘氨酸血症,大田原综合征,GLDC基因,基因突变,婴儿,
Nonketotic hyperglycinemia,Ohtahara syndrome,GLDC gene,Gene mutation,Infant

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