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Article

Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Oct 2022

Balarin Marly Aparecida Spadotto, Cintra Mariângela Torreglosa Ruiz, Cordeiro Fernanda, Naves Lucila, da Silva-Grecco Roseane Lopes

Abstract excerpt

OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29130768
DOI: 10.1080/14767058.2017.1404565

Genes

RFC1
MTHFR
CBS
MTR
MTRR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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