同一家系中钼辅因子缺乏症相同MOCS1基因变异不同临床表型特点分析 
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Analysis of identical MOCS1 gene variationbutdifferent clinical phenotypes in the same family with molyb⁃ denum cofactor deficiency 
GUAN Ruilian, LAI Liming.
实用医学杂志 . 2023, (13): 1682 -1687 .  DOI: 10.3969/j.issn.1006⁃5725.2023.13.015