A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability

J Med Genet. 2004 Mar;41(3):e34. doi: 10.1136/jmg.2003.013714.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Cell Line
  • Chromosomes, Human, Pair 3 / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Mutational Analysis
  • Female
  • Founder Effect*
  • Frameshift Mutation / genetics*
  • Humans
  • Immunohistochemistry
  • Italy
  • Male
  • Microsatellite Repeats / genetics
  • MutL Protein Homolog 1
  • Neoplasm Proteins / analysis
  • Neoplasm Proteins / chemistry*
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Nuclear Proteins
  • Pedigree

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • MutL Protein Homolog 1