Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
Yosep ChongMinyoung KimEun Sil KohSeok Joon ShinHo-Shik KimSungjin ChungPublished in: BMC medical genetics (2016)
A novel GLA mutation, c.263A > G (p.Tyr88Cys), was found in a Korean family with predominant renal manifestations of Fabry disease.