Associated Papers
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Massadeh S et al.
Frontiers in Neurology, 2019
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
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