Table 1 Distribution of mutations in the human GLA gene in Korean patients with Fabry disease. Italicized, bolded text refers to the novel mutant identified in the study. The mutations were described according to established mutation nomenclature (http://www.hgvs.org/mutnomen). NM_000169.1 (GenBank) was used as a reference sequence. The +1 notation corresponds to the A of the ATG translation initiation codon. N/A, not applicable
