A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

J Med Genet. 2000 Nov;37(11):E36. doi: 10.1136/jmg.37.11.e36.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution*
  • Base Sequence
  • Chronic Disease
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Genotype
  • Molecular Sequence Data
  • Mutation
  • Pancreatitis / genetics*
  • Sequence Homology, Nucleic Acid
  • Trypsin*
  • Trypsinogen / genetics*

Substances

  • PRSS2 protein, human
  • Trypsinogen
  • DNA
  • Trypsin