Associated Papers
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
[Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D et al.
Medecine Sciences : M/s, 2007
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.
Tonetti C et al.
Journal of Inherited Metabolic Disease, 2001
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