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Article

Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2002

Cunha Andrea L A, Hirata Mario H, Kim Chong A, Guerra-Shinohara Elvira M, Nonoyama Kymio, Hirata Rosario D C

Abstract excerpt

BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) deficiency leads to impairment in folate metabolism and is implicated as a risk factor for neural tube defects (NTDs). Both C677T and A1298C MTHFR mutations are associated with NTDs, in some populations. METHODS: The frequencies of the C677T and A1298C MTHFR mutations were determined in 25 children with NTDs, case mothers and 75 healthy individuals from Sao...

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Source

Identifiers

PMID: 11880124
DOI: 10.1016/s0009-8981(01)00764-1

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects.PMID 11880124Read ↗

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