RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

Human Mutation

Volumn 29, Issue 2, 2008, Pages 299-305

  Etzler, J ^a   Peyrl, A ^a   Zatkova, A ^a   Schildhaus, H U ^b   Ficek, A ^c   Merkelbach Bruse, S ^b   Kratz, C P ^d   Attarbaschi, A ^e   Hainfellner, J A ^f   Yao, S ^g   Messiaen, L ^g   Slave, I ^a   Wimmer, Katharina ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF BONN   (Germany)

^c Physics and Informatics   (Slovakia)

^d UNIVERSITY OF FREIBURG   (Germany)

^e ST ANNA CHILDREN S HOSPITAL   (Austria)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

HNPCC; Mismatch repair deficiency; MSH6; NF1; PMS2; PMS2CL; Pseudogene; Splicing mutation

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; RNA; ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MESSENGER RNA; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BRAIN TUMOR; CANCER GENETICS; COLORECTAL CANCER; DIGESTIVE SYSTEM CANCER; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HEMATOLOGIC MALIGNANCY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MLH1 GENE; MMR DEFICIENCY SYNDROME; MSH2 GENE; MSH6 GENE; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; PMS2 GENE; PMS2CL GENE; PRIORITY JOURNAL; PSEUDOGENE; RNA SPLICING; CHILD; GENETICS; MOLECULAR GENETICS; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; ALLELES; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; PSEUDOGENES; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, RNA;

EID: 38949127061     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20657     Document Type: Article

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