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Article

Is mitochondrial tRNA(Ser(UCN)) T7501C mutation associated with cardiovascular disease?

Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis - 1 Jan 2016

Ding Yu, Huang Jinyu

Abstract excerpt

Mitochondrial DNA mutations are increasingly recognized as an important cause of cardiovascular diseases, point mutations in mitochondrial tRNA genes being the largest group among them. Most recently, mutation at position 7501 in mt-tRNA(Ser(UCN)) gene has been reported to be associated with human cardiovascular diseases including cardiomyopathy, sudden cardiac death (SCD) and Tetralogy of Fallot (TOF). However,...

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Source

Identifiers

PMID: 24491108
DOI: 10.3109/19401736.2014.880891

Genes

UCN
SCD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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