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Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

✍ Scribed by María-Luisa Martínez-Frías; Belén Pérez; Lourdes R. Desviat; Margarita Castro; Fátima Leal; Laura Rodríguez; Elena Mansilla; María-Luisa Martínez-Fernández; Eva Bermejo; Elvira Rodríguez-Pinilla; David Prieto; Magdalena Ugarte

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 153 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31203

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Evaluation of C677T and A1298C polymorph

Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects

✍ Ana Paula Carneiro Brandalize; Eliane Bandinelli; Pollyanna Almeida dos Santos; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB

## Abstract Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved in this pathway has been implicated as an etiologic factor in Down syndrome (DS). This case–control study aimed to evaluate the effect of maternal C677T and A1298C polymorphisms of the methylenetetrahydrofola