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Figure 3 Genetic Analysis
(A) The denaturing high-performance liquid chromatography elution profiles for an SCN5A mutation, M1875T, detected in the affected family members. (B) Deoxyribonucleic acid sequencing electropherograms demonstrate heterozygosity for a SCN5A mutation. (C) Topology of the
-subunit of voltage-gated cardiac sodium (Na+) channel. The location of the detected mutation is shown. (D) Amino acid sequence alignments of SCN5A with related Na+ channels. The SCN5A indicates human heart; SCN1A, human brain type I; SCN2A, human brain type II; SCN3A, human brain type III; SCN4A, human skeletal muscle. The sequences of other species represent the cardiac isoforms of Na+ channels.