Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5509708 | Clinica Chimica Acta | 2017 | 21 Pages |
Abstract
The novel pathogenic SLC5A2 mutation p.S293C was responsible for the onset of FRG. Our study further confirmed the co-dominant inheritance trait with variable penetrance and expanded the clinical and genetic spectrum of FRG.
Keywords
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Biochemistry
Authors
Xiaojing Wang, Miao Yu, Tong Wang, Huabing Zhang, Fan Ping, Qian Zhang, Jianping Xu, Kai Feng, Xinhua Xiao,