成骨不全Ⅰ型家系的基因检测和COL1A2基因新突变的致病性鉴定
李荣, 郭源平, 潘敬新, 郭奕斌
Genetic screening of a pedigree with osteogenesis imperfecta type Ⅰ and identification of a novel mutation in COL1A2 pathogenic gene
Rong Li, Yuanping Guo, Jingxin Pan, Yibin Guo
遗传 . 2015, (1): 41 -47 .  DOI: 10.16288/j.yczz.2015.01.006