Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. [electronic resource]
- Clinical genetics Dec 2011
- 558-65 p. digital
Publication Type: Case Reports; Journal Article
1399-0004
10.1111/j.1399-0004.2010.01608.x doi
Adenosine Triphosphatases--genetics Adult Aged, 80 and over Brain Neoplasms--diagnosis Child DNA Mismatch Repair DNA Repair Enzymes--genetics DNA Repair-Deficiency Disorders--genetics DNA-Binding Proteins--genetics Female Gene Expression Regulation, Neoplastic Genetic Testing Germ-Line Mutation Heterozygote Humans Immunohistochemistry Male Microsatellite Instability Middle Aged Mismatch Repair Endonuclease PMS2 MutS Homolog 2 Protein--genetics Neoplastic Syndromes, Hereditary--diagnosis Pedigree