应用高通量靶向测序研究遗传性骨病致病基因
序号 | 标题 | 类型 | 作者 |
---|---|---|---|
1 | Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly | 期刊论文 | You Guoling;Zu Bailing;Wang Bo;Wang Zhigang;Xu Yunlan;Fu Qihua |
2 | Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia | 期刊论文 | Lv Mingming;You Guoling;Wang Jinbing;Fu Qihua;Gupta Anand;Li Jun;Sun Jian |