Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients

Familial Cancer

Volumn 8, Issue 4, 2009, Pages 489-500

  Christensen, Lise Lotte ^a   Kariola, Reetta ^b   Korhonen, Mari K ^b   Wikman, Friedrik P ^a   Sunde, Lone ^a   Gerdes, Anne Marie ^c   Okkels, Henrik ^a   Brandt, Carsten A ^d   Bernstein, Inge ^e   Hansen, Thomas V O ^f   Hagemann Madsen, Rikke ^a   Andersen, Claus L ^a   Nyström, Minna ^b   Erntoft, Torben F ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF HELSINKI   (Finland)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d LILLEBAELT HOSPITAL   (Denmark)

^e HVIDOVRE HOSPITAL   (Denmark)

^f Rigshospitalet   (Denmark)

Author keywords

Danish population; Functional assay; HNPCC; Mismatch repair; Misssense mutation; MLH1 and MSH2

Indexed keywords

PROTEIN MSH2; PROTEIN MSH6;

ARTICLE; CANCER PATIENT; CLINICAL STUDY; COLORECTAL CANCER; COMPUTER MODEL; CONTROLLED STUDY; CORRELATION ANALYSIS; DENMARK; EXPRESSION VECTOR; FAMILY; GENE; GENE FUNCTION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MISSENSE MUTATION; MLH1 GENE; MSH2 GENE; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK FACTOR; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BLOTTING, WESTERN; COLORECTAL NEOPLASMS; DENMARK; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE;

EID: 70449536471     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9274-4     Document Type: Article

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