Article ID Journal Published Year Pages File Type
5509708 Clinica Chimica Acta 2017 21 Pages PDF
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.
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Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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