| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5890806 | Bone | 2012 | 7 Pages |
Abstract
⺠Nine novel mutations of the CYP27B1 gene were found in eight Chinese families with PDDR. ⺠The mutation G57V of the CYP27B1 gene was a suspected hot spot in Chinese Han race. ⺠Partial loss of activity of 1α-hydroxylase with six novel missense mutations was demonstrated by functional study.
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Developmental Biology
Authors
Ningyi Cui, Weibo Xia, Hua Su, Li Pang, Yan Jiang, Yue Sun, Min Nie, Xiaoping Xing, Mei Li, Ou Wang, Tao Yuan, Yue Chi, Yingying Hu, Huaicheng Liu, Xunwu Meng, Xueying Zhou,