Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer

International Journal of Colorectal Disease

Volumn 24, Issue 8, 2009, Pages 885-893

  Montazer Haghighi, Mahdi ^a   Radpour, Ramin ^b   Aghajani, Katayoun ^a   Zali, Narges ^a   Molaei, Mahsa ^a   Zali, Mohammad Reza ^a  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF BASEL   (Switzerland)

Author keywords

HNPCC; Microsatellite instability; Mismatch repair; MLH1; MMR; PMS2

Indexed keywords

ADENINE; CYTOSINE; GLUTAMIC ACID; GLYCINE; ISOLEUCINE; LEUCINE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PYRIMIDINE; THYMINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE FUNCTION; GENE SEQUENCE; GENETIC CONSERVATION; GERM LINE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IRAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STOP CODON;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; AGED; CODON, NONSENSE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE EXPRESSION REGULATION, NEOPLASTIC; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; IRAN; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE;

EID: 67649476101     PISSN: 01791958     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00384-009-0731-1     Document Type: Article

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