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Functional evaluation of a novel GLA causative mutation in Fabry disease.

Ping LiLijuan ZhangQiuhong XiongZhe WangXiaodong CuiYong-An ZhouYuxian WangHan XiaoChangxin Wu
Published in: Molecular genetics & genomic medicine (2019)
A novel GLA missense mutation, c.280T>C (Cys94Arg), was found in a Chinese family with predominant renal manifestations of FD. Our study reveals the pathogenesis of c.280T>C mutation to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD.
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