| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8309790 | Clinica Chimica Acta | 2018 | 6 Pages |
Abstract
Our study indicated that the prevalence of GLIS3 variations was 0.3% among studied Chinese CH patients. Multiple variations in one or more CH associated genes can be found in one patient. We found a novel GLIS3 variation c.2159GÂ >Â A (p.R720Q), thereby expanding the variation spectrum of the gene.
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Authors
Chunyun Fu, Shiyu Luo, Xigui Long, Yingfeng Li, Shangyang She, Xuehua Hu, Meizhen Mo, Zhanghong Wang, Yuhua Chen, Chun He, Jiasun Su, Yue Zhang, Fei Lin, Bobo Xie, Qifei Li, Shaoke Chen,