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Article

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2005

Brown Nicholas M, Pratt Victoria M, Buller Arlene, Pike-Buchanan Lisa, Redman Joy B, Sun Weimin, Chen Rebecca, Crossley Beryl, McGinniss Matthew J, Quan Franklin, Strom Charles M

Abstract excerpt

PURPOSE: Genotyping 37,026 individuals as part of a thrombophilia evaluation, we determined and analyzed the genotypic frequencies of the 677CT and 1298AC mutations in the methylenetetrahydrofolate reductase (MTHFR) gene. METHODS: The 677CT and 1298AC mutations in the MTHFR gene were determined by either a laboratory-developed test involving PCR amplification and restriction digestion utilizing the ABI 3100...

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Source

Identifiers

PMID: 15834246
DOI: 10.1097/01.gim.0000159904.92850.d5

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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