GM1神经节苷脂沉积病致病基因GLB1新变异c.101T>C(p.Ile34Thr)的识别和致病性分析
兰雪荣, 邱建武, 李华, 蔡香然, 宋元宗
Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis
LAN Xue-Rong, QIU Jian-Wu, LI Hua, CAI Xiang-Ran, SONG Yuan-Zong
中国当代儿科杂志
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2019, (1): 71
-76
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DOI: 10.7499/j.issn.1008-8830.2019.01.013
