Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.

Lignende værker

• A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
  af: Tanoue, A, et al.
  Udgivet: (1990)
• Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.
  af: Tanoue, A, et al.
  Udgivet: (1991)
• Prolidase deficiency: biochemical classification of alleles.
  af: Boright, A P, et al.
  Udgivet: (1989)
• Prolidase deficiency and systemic lupus erythematosus
  af: Shrinath, M, et al.
  Udgivet: (1997)
• Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
  af: Fleger, M., et al.
  Udgivet: (2017)