Expression defect size among unclassified MLH1 variants determines pathogenicity in lynch syndrome diagnosis

Clinical Cancer Research

Volumn 19, Issue 9, 2013, Pages 2432-2441

  Hinrichsen, Inga ^a   Brieger, Angela ^a   Trojan, Jörg ^a   Zeuzem, Stefan ^a   Nilbert, Mef ^b,c   Plotz, Guido ^a  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1;

ADULT; ARTICLE; BIOINFORMATICS; CARCINOGENICITY; CELL STRAIN HEK293; COMPUTER MODEL; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC STABILITY; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MISSENSE MUTATION; MLH1 GENE; MOLECULAR DYNAMICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN STABILITY; STRUCTURE ANALYSIS; THERMOSTABILITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AMINO ACID SEQUENCE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CONSERVED SEQUENCE; DNA MISMATCH REPAIR; GENE EXPRESSION; HEK293 CELLS; HUMANS; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROTEIN STABILITY;

EID: 84877096243     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-12-3299     Document Type: Article

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