Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. [electronic resource]
- European journal of cancer (Oxford, England : 1990) Mar 2014
- 987-96 p. digital
Publication Type: Journal Article
1879-0852
10.1016/j.ejca.2013.12.005 doi
Adaptor Proteins, Signal Transducing--genetics Adenosine Triphosphatases--genetics Adolescent Cafe-au-Lait Spots--diagnosis Child Child, Preschool DNA Mismatch Repair--genetics DNA Repair Enzymes--genetics DNA-Binding Proteins--genetics Family Health Female Humans Immunohistochemistry Infant Male Microsatellite Instability Mismatch Repair Endonuclease PMS2 MutL Protein Homolog 1 MutS Homolog 2 Protein--genetics Mutation Neoplasms--diagnosis Nuclear Proteins--genetics Pedigree Syndrome