Articles tagged with MTHFR
A Founder Mutation Causing a Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Bukharian Jews
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon.