For example, a deep intronic mutation (c.639+919G>A) in the galactosidase alpha (GLA) gene, responsible for Fabry disease, disrupts an hnRNP A1 and hnRNP A2/B1-binding splicing silencer motif, thus allowing binding of U1 snRNP to an overlapping cryptic 5'ss that results in pseudo-exon inclusion [27]. Here, GLA is linked to Fabry disease.