Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.

Abstract

704 available family members (mother and sister) and revealed no abnormalities. A genetic study was performed to gain insight into SCD in the family and identify family members at potential risk. DNA was extracted from peripheral blood by phenol extraction. Next-generation sequencing (NGS) in the proband was performed using the TruSight One (TSO, Illumina… (More)
DOI: 10.20452/pamw.3567

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