Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Clinical Genetics

Volumn 80, Issue 6, 2011, Pages 558-565

  Leenen, Chm ^a   Geurts Giele, Wrr ^a   Dubbink, Hj ^a   Reddingius, R ^a   van den Ouweland, Am ^a   Tops, Cmj ^b   van de Klift, Hm ^b   Kuipers, Ej ^a   van Leerdam, Me ^a   Dinjens, Wnm ^a   Wagner, A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Compound heterozygosity; Constitutional mismatch repair deficiency; Immunohistochemistry; Lynch syndrome; Microsatellite instability; PMS2

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ALLELE; ARTICLE; BRAIN TUMOR; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HEREDITARY COLORECTAL CANCER; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATASES; ADULT; AGED, 80 AND OVER; BRAIN NEOPLASMS; CHILD; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA REPAIR-DEFICIENCY DISORDERS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC TESTING; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE;

EID: 80054928514     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01608.x     Document Type: Article

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