Sentence Examples


  • HEP is an autosomal recessive disease caused by mutations in the gene responsible for PCT, the uroporphyrinogen decarboxylase gene (UROD), located at 1p34.
  • HEP results from a defect in uroporphyrinogen decarboxylase activity (step 5), and is caused by defects in the same gene as PCT.
  • HEP is linked to a deficiency of uroporphyrinogen decarboxylase in both the liver and the bone marrow.
  • PCT is caused by mutations in the uroporphyrinogen decarboxylase gene (UROD) located at 1p34.
  • The other is a GAD (Glutamic Acid Decarboxylase) autoantibody test.