Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C > T/p.Arg118Cys: A family study

ConclusionThis is the first report that shows a link between FD renal Gb3 deposits and c.352C>T/p.Arg118Cys variant, supporting pathogenicity of a variant considered until now with uncertain pathogenicity.

Source: Molecular Genetics & Genomic Medicine - September 29, 2019 Category: Genetics & Stem Cells Authors: Magdalena Cer ón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza Tags: ORIGINAL ARTICLE Source Type: research