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Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida

✍ Scribed by Perez, Ana Beatriz Alvarez ;D'Almeida, V�nia ;Vergani, Naja ;de Oliveira, Allan C. ;de Lima, Fernanda Teresa ;Brunoni, Decio

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 73 KB
Volume: 119A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10059

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Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population

✍ Rady, Peter L.; Tyring, Stephen K.; Hudnall, S. David; Vargas, Trini; Kellner, L 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

The polymorphic mutation C677T in the gene of MTHFR is considered a risk mutation for spina bifida and vascular disease. Another common mutation on the MTHFR gene, A1298C, has also been described as another risk mutation. We studied the frequencies of these two mutations on DNA samples from healthy