Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

Clin Genet. 2018 Dec;94(6):588-589. doi: 10.1111/cge.13444. Epub 2018 Sep 24.
No abstract available

Publication types

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

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis
  • Adenomatous Polyposis Coli / genetics
  • Alleles*
  • Biopsy
  • Colonoscopes
  • Deoxyribonuclease (Pyrimidine Dimer) / genetics*
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation*
  • Humans
  • Intestinal Mucosa / pathology
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Phenotype*

Substances

  • Deoxyribonuclease (Pyrimidine Dimer)
  • NTHL1 protein, human