GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing
Keywords: FD, Fabry disease; XCI, X-chromosome inactivation; α-Gal A, α-galactosidase A; CGN, chronic glomerulonephritis; SNVs, Single nucleotide variants; GATK, Genome Analysis Toolkit; LCLs, lymphoblastoid cell linesExome sequencing; Fabry disease; The GLA gene;