A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Human Mutation

Volumn 29, Issue 12, 2008, Pages 1412-1424

  Tournier, Isabelle ^a   Vezain, Myriam ^a   Martins, Alexandra ^a   Charbonnier, Françoise ^a   Baert Desurmont, Stéphanie ^a,b   Olschwang, Sylviane ^c   Wang, Qing ^d   Buisine, Marie Pierre ^e   Soret, Johann ^f   Tazi, Jamal ^f   Frébourg, Thierry ^a,b   Tosi, Mario ^a,g  

^a UNIVERSITÉ DE ROUEN   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c INSTITUT PAOLI CALMETTES   (France)

^d CENTRE LÉON BÉRARD   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f CNRS   (France)

^g INSERM   (France)

Author keywords

Lynch syndrome; MLH1; MSH2; Splicing assay; Splicing mutation; Variant of unknown significance

Indexed keywords

GENOMIC DNA; PROTEIN MLH1; PROTEIN MSH2;

ADULT; ALLELE; ARTICLE; EXON; FAMILIAL CANCER; FAMILY; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HELA CELL; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REPORTER GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FAMILY; HUMANS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; RNA SPLICING;

EID: 47149097787     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20796     Document Type: Article

References (46)

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