Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL

Genes Chromosomes and Cancer

Volumn 51, Issue 9, 2012, Pages 819-831

  Wernstedt, Annekatrin ^a   Valtorta, Emanuele ^b   Armelao, Franco ^c   Togni, Roberto ^c   Girlando, Salvatore ^c   Baudis, Michael ^d   Heinimann, Karl ^e   Messiaen, Ludwine ^f   Staehli, Noemie ^b   Zschocke, Johannes ^a   Marra, Giancarlo ^b   Wimmer, Katharina ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c SANTA CHIARA HOSPITAL   (Italy)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e UNIVERSITY OF BASEL   (Switzerland)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CROSSING OVER; EXON; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE SEQUENCE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; INTRON; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PMS 2 GENE; PMS 2CL GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; RELIABILITY; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; ADULT; AGED; AGED, 80 AND OVER; ALLELES; COLORECTAL NEOPLASMS; DNA REPAIR ENZYMES; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MUTATION; NEOPLASM STAGING; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; PSEUDOGENES; RECOMBINATION, GENETIC;

EID: 84863593890     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.21966     Document Type: Article

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