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
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2015, (1): 41
-47
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DOI: 10.16288/j.yczz.2015.01.006