Leenen, C H M

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