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
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2017 | |
卷号 | 17 |
关键词 | c.G1636A p.G546S COL2A1 Dappling Corner fracture |
DOI | 10.1186/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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