Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

European Journal of Human Genetics

Volumn 8, Issue 1, 2000, Pages 49-53

  Fidalgo, Paulo ^a   Almeida, Maria Rosario ^d   West, Sarah ^c   Gaspar, Claudia ^a   Maia, Lara ^a   Wijnen, Juul ^b   Albuquerque, Cristina ^a   Curtis, Ann ^d   Cravo, Marilia ^a   Fodde, Riccardo ^b   Leitao, C Nobre ^a   Burn, John ^d  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b LEIDEN UNIVERSITY   (Netherlands)

^c NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d NONE

Author keywords

Denaturing gradient gel electrophoresis; Hereditary non polyposis colorectal cancer; Heteroduplex analysis; Mutation detection; Protein truncation test; Single strand conformation polymorphism

Indexed keywords

ARTICLE; BASE MISPAIRING; CLINICAL ARTICLE; CLINICAL TRIAL; COLORECTAL CANCER; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DNA REPAIR; FAMILIAL CANCER; GENE; GENE MUTATION; GENOTYPE; HETERODUPLEX ANALYSIS; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; PROTEIN ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TECHNIQUE;

BASE PAIR MISMATCH; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORTUGAL; PROTO-ONCOGENE PROTEINS; RNA;

EID: 0033993522     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200393     Document Type: Article

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