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Article

Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 1 Jun 2002

Scholtz Charlotte L, Odendaal Hein J, Thiart Rochelle, Loubser Lynzie, Hillermann Renate, Delport Rhena, Vermaak W J Hayward, Kotze Maritha J

Abstract excerpt

OBJECTIVE: The frequencies of mutations 677C-->T and 1298A-->C in the methylenetetrahydrofolate reductase (MTHFR) gene, previously shown to be associated with decreased enzyme activity that may lead to hyperhomocysteinaemia and consequently increased risk of cardiovascular disease (CVD), were determined in the South African population. METHODS: HinfI (677C-->T) and MboII (1298A-->C) restriction enzyme analyses...

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Source

Identifiers

PMID: 12146133

Genes

MTHFR

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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