A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening

J Med Genet. 1999 Oct;36(10):790-3. doi: 10.1136/jmg.36.10.792.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenomatous Polyposis Coli Protein
  • Carrier Proteins
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Cytoskeletal Proteins / genetics*
  • DNA-Binding Proteins*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Jews
  • Male
  • Microsatellite Repeats
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein
  • Mutation, Missense*
  • Neoplasm Proteins / genetics
  • Nuclear Proteins
  • Nucleic Acid Conformation
  • Nucleic Acid Hybridization
  • Pedigree
  • Proto-Oncogene Proteins / genetics*
  • Risk Factors

Substances

  • Adaptor Proteins, Signal Transducing
  • Adenomatous Polyposis Coli Protein
  • Carrier Proteins
  • Cytoskeletal Proteins
  • DNA-Binding Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein