Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. [electronic resource]
Producer: 20120216Description: 558-65 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Case Reports; Journal Article
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