A human compound heterozygote for two MLH1 missense mutations

Nat Genet. 1997 Oct;17(2):135-6. doi: 10.1038/ng1097-135.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Aged
  • Animals
  • Breast Neoplasms, Male / genetics
  • Carrier Proteins
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Repair / genetics
  • Female
  • Heterozygote*
  • Humans
  • Male
  • Mice
  • Middle Aged
  • MutL Protein Homolog 1
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins
  • Pedigree

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Mlh1 protein, mouse
  • Neoplasm Proteins
  • Nuclear Proteins
  • MutL Protein Homolog 1