High Penetrance of the PRSS1 A16V Mutation in a Kindred With SPINK1 N34S and CFTR TG11-5T Co-mutations

Pancreas. 2016 Jan;45(1):e2-4. doi: 10.1097/MPA.0000000000000445.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pancreatitis / diagnosis
  • Pancreatitis / enzymology
  • Pancreatitis / genetics*
  • Pedigree
  • Penetrance*
  • Phenotype
  • Risk Factors
  • Trypsin / genetics*
  • Trypsin Inhibitor, Kazal Pancreatic

Substances

  • CFTR protein, human
  • Carrier Proteins
  • SPINK1 protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Trypsin Inhibitor, Kazal Pancreatic
  • PRSS1 protein, human
  • Trypsin