High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

This publication has 18 references indexed in Scilit:

• Denaturing Gradient Gel Electrophoresis for Rapid Detection of Latent Carriers of a Subtype of Acute Intermittent Porphyria with Normal Erythrocyte Porphobilinogen Deaminase Activity
  Clinical Chemistry, 1992
• Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
  Proceedings of the National Academy of Sciences, 1991
• Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
  1991
• Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
  Genomics, 1989
• Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
  European Journal of Clinical Investigation, 1989
• THE MOUSE PORPHOBILINOGEN DEAMINASE GENE - STRUCTURAL ORGANIZATION, SEQUENCE, AND TRANSCRIPTIONAL ANALYSIS
  1989
• Isolation and characterisation of a cDNA clone for a chlorophyll synthesis enzyme from Euglena gracilis
  European Journal of Biochemistry, 1989
• Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support
  Nucleic Acids Research, 1989
• Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form
  Nucleic Acids Research, 1988
• Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.
  Journal of Clinical Investigation, 1985