1例遗传性多发性骨软骨瘤家系EXT1基因分析
王薇, 邱正庆, 宋红梅
A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses
WANG Wei, QIU Zheng-Qing, SONG Hong-Mei
中国当代儿科杂志 . 2014, (2): 174 -180 .  DOI: 10.7499/j.issn.1008-8830.2014.02.016