Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

Samankaltaisia teoksia

• Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
  Tekijä: Goyette, P, et al.
  Julkaistu: (1995)
• A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
  Tekijä: Massadeh, Salam, et al.
  Julkaistu: (2019)
• Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Turkish patients with thrombosis
  Tekijä: G Balta, et al.
  Julkaistu: (1999-04-01)
• Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency
  Tekijä: Roy, Marc, et al.
  Julkaistu: (2008)
• Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
  Tekijä: Huemer, Martina, et al.
  Julkaistu: (2016)