TY - GEN AU - Leenen,C H M AU - Geurts-Giele,W R R AU - Dubbink,H J AU - Reddingius,R AU - van den Ouweland,A M AU - Tops,C M J AU - van de Klift,H M AU - Kuipers,E J AU - van Leerdam,M E AU - Dinjens,W N M AU - Wagner,A TI - Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations SN - 1399-0004 PY - 2012///0216 KW - Adenosine Triphosphatases KW - genetics KW - Adult KW - Aged, 80 and over KW - Brain Neoplasms KW - diagnosis KW - Child KW - DNA Mismatch Repair KW - DNA Repair Enzymes KW - DNA Repair-Deficiency Disorders KW - DNA-Binding Proteins KW - Female KW - Gene Expression Regulation, Neoplastic KW - Genetic Testing KW - Germ-Line Mutation KW - Heterozygote KW - Humans KW - Immunohistochemistry KW - Male KW - Microsatellite Instability KW - Middle Aged KW - Mismatch Repair Endonuclease PMS2 KW - MutS Homolog 2 Protein KW - Neoplastic Syndromes, Hereditary KW - Pedigree N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1111/j.1399-0004.2010.01608.x ER -