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Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
Chen, Jing; Ma, Xiaomin; Zhou, Yulin; Li, Guimei; Guo, Qiwei
刊名BMC PEDIATRICS
2017
卷号17
关键词c.G1636A p.G546S COL2A1 Dappling Corner fracture
DOI10.1186/s12887-017-0930-9
URL标识查看原文
公开日期[db:dc_date_available]
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/4586227
专题山东大学
作者单位1.Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R China.
2.[Chen, Jin
推荐引用方式
GB/T 7714
Chen, Jing,Ma, Xiaomin,Zhou, Yulin,et al. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report[J]. BMC PEDIATRICS,2017,17.
APA Chen, Jing,Ma, Xiaomin,Zhou, Yulin,Li, Guimei,&Guo, Qiwei.(2017).Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.BMC PEDIATRICS,17.
MLA Chen, Jing,et al."Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report".BMC PEDIATRICS 17(2017).
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