| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8339495 | The Journal of Steroid Biochemistry and Molecular Biology | 2013 | 5 Pages |
Abstract
⺠The enzymatic activities for mutants were almost completely abolished, which are in agreement with classic form of 11β-OHD. ⺠Haplotype analysis showed that the p.R454C mutation (five of nine patients) might be inherited from a common ancestor. ⺠Early diagnosis and treatment are the keys to prevent most co-morbidities.
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Authors
Manna Zhang, Yanling Liu, Shouyue Sun, Huijie Zhang, Weiqing Wang, Guang Ning, Xiaoying Li,