| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8338155 | The Journal of Steroid Biochemistry and Molecular Biology | 2015 | 6 Pages |
Abstract
The c.985_987delinsAA/p.Y329Kfs and c.1460_1469del/p.D487_F489del mutations are prevalent in Chinese 17OHD patients. The genetic defects are well correlated with the phenotypes in both complete and partial forms of 17OHD.
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Authors
Manna Zhang, Shouyue Sun, Yanling Liu, Huijie Zhang, Yang Jiao, Weiqing Wang, Xiaoying Li,