Articles with "methylenetetrahydrofolatereductase mthfr" as a keyword



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Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family

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Published in 2017 at "Human Mutation"

DOI: 10.1002/humu.23132

Abstract: To the Editor: We read with interest the article by Froese et al. [2016] reporting an exhaustively updated review on methylenetetrahydrofolatereductase (MTHFR, MIM# 607093) gene mutations. Among the 109 mutations from 192 patients described as… read more here.

Keywords: characterization rare; methylenetetrahydrofolatereductase mthfr; gene; mutation ... See more keywords