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
CJCP . 2019, (1): 71 -76 .  DOI: 10.7499/j.issn.1008-8830.2019.01.013