Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Petersen, Sanne M ^a   Dandanell, Mette ^a   Rasmussen, Lene J ^a   Gerdes, Anne Marie ^a   Krogh, Lotte N ^b   Bernstein, Inge ^a   Okkels, Henrik ^c   Wikman, Friedrik ^d   Nielsen, Finn C ^a   Hansen, Thomas v O ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c AALBORG UNIVERSITY HOSPITAL   (Denmark)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Colorectal cancer; HNPCC; Lynch syndrome; Mini gene assay; Mismatch repair genes MLH1, MSH2, and MSH6; Splicing defect

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ARTICLE; CANCER PATIENT; COLORECTAL CANCER; COMPUTER MODEL; EXON; GENE MUTATION; GENETIC VARIABILITY; GERM LINE; HUMAN; IN VITRO STUDY; INTRON; MUTANT; NUCLEOTIDE SEQUENCE; PREDICTION; RNA SPLICING; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; COLORECTAL NEOPLASMS; DENMARK; DNA-BINDING PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC COUNSELING; HUMANS; INTRONS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; RNA SPLICE SITES;

EQUUS ASINUS;

EID: 84884859439     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-103     Document Type: Article

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