Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants

Human Genetics

Volumn 119, Issue 1-2, 2006, Pages 9-22

  Pagenstecher, Constanze ^a   Wehner, Maria ^a   Friedl, Waltraut ^a   Rahner, Nils ^a   Aretz, Stefan ^a   Friedrichs, Nicolaus ^a   Sengteller, Marlies ^a   Henn, Wolfram ^b   Buettner, Reinhard ^a   Propping, Peter ^a   Mangold, Elisabeth ^a  

^a UNIVERSITY OF BONN   (Germany)

^b SAARLAND UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; PROTEIN MLH1; PROTEIN MSH2;

ADULT; AGED; ALLELE; ARTICLE; COLORECTAL CANCER; EXON; FAMILIAL CANCER; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISMATCH REPAIR; MISSENSE MUTATION; MUTANT; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PREDICTION; PRIORITY JOURNAL; RNA SPLICING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; ALTERNATIVE SPLICING; BASE SEQUENCE; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE DELETION; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SOFTWARE;

EID: 33644546026     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0107-8     Document Type: Article

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