Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

Journal of Medical Genetics

Volumn 48, Issue 8, 2011, Pages 513-519

  Morak, Monika ^a,b   Koehler, Udo ^b   Schackert, Hans Konrad ^c   Steinke, Verena ^d   Royer Pokora, Brigitte ^e   Schulmann, Karsten ^f   Kloor, Matthias ^g   Höchter, Wilhelm ^h   Weingart, Josef ^h   Keiling, Cortina ^b   Massdorf, Trisari ^a   Holinski Feder, Elke ^a,b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b MGZ Center of Medical Genetics   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f RUHR UNIVERSITY BOCHUM   (Germany)

^g UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^h Gastroenterology Office   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; LEUCINE RICH REPEAT FLIGHTLESS INTERACTING PROTEIN 2; PROTEIN DERIVATIVE; PROTEIN MLH1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BASE MISPAIRING; CHROMOSOME 3P; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA METHYLATION; EXON; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE FUSION; GENE IDENTIFICATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; METHYLATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; BASE SEQUENCE; CHROMOSOME INVERSION; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FAMILY; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC TESTING; GENOME, HUMAN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 79961129383     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100050     Document Type: Article

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