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Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T.

Human genomics - 29 Jan 2024

Ali Syed Irtiza, Khan Obaid Yusuf, Naveed Nadir, Ahmad Hussain, Patel Najma, Arif Afsheen

Abstract excerpt

BACKGROUND: Congenital heart defects (CHDs) are the heart structural malformations present at birth. Septal defects account for 40% of CHD, including atrial, ventricular and atrioventricular septal defects. In Pakistan, the prevalence of CHD is 3.4 in 1000, and a study estimated that 60,000 babies are born with CHD annually. Methylenetetrahydrofolate reductase (MTHFR), a chief enzyme, involved in the folate...

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Identifiers

PMID: 38287462
DOI: 10.1186/s40246-023-00566-5
PMCID: PMC10826090

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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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