Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

Podobne zapisy

• Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
  od: Dahl, H H, i wsp.
  Wydane: (1987)
• The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
  od: Dahl, H H, i wsp.
  Wydane: (1988)
• Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
  od: Dianzani, I, i wsp.
  Wydane: (1993)
• Two mutations of dihydropteridine reductase deficiency.
  od: Ponzone, A, i wsp.
  Wydane: (1988)
• Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
  od: Firgaira, F A, i wsp.
  Wydane: (1981)