Novel biallelic mutations in MSH6 and PMS2 genes: Gene conversion as a likely cause of PMS2 gene inactivation

Human Mutation

Volumn 28, Issue 11, 2007, Pages 1084-1090

  Auclair, Jessie ^a   Leroux, Dominique ^b   Desseigne, Françoise ^a   Lasset, Christine ^a   Saurin, Jean Christophe ^c   Joly, Marie Odile ^d   Pinson, Stéphane ^e   Xiao, Li Xu ^f   Montmain, Gilles ^a,e   Ruano, Eric ^a,e   Navarro, Claudine ^a   Puisieux, Alain ^a,g   Wang, Qing ^a,e  

^a CENTRE LÉON BÉRARD   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e HOSPICES CIVILS DE LYON   (France)

^f Hospital of Shanghai   (China)

^g INSERM   (France)

Author keywords

Biallelic mutation; DNA mismatch repair; Gene conversion; HNPCC

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MSH6;

ARTICLE; BRAIN TUMOR; CAFE AU LAIT SPOT; CHILDHOOD CANCER; COLORECTAL CANCER; DNA REPAIR; GENE CONVERSION; GENE INACTIVATION; GENE MUTATION; HETEROZYGOTE; HUMAN; MISMATCH REPAIR; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; ADULT; BASE PAIR MISMATCH; BASE SEQUENCE; BRAIN NEOPLASMS; COLORECTAL NEOPLASMS; DNA PRIMERS; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENE CONVERSION; GENE SILENCING; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; PEDIGREE; PIGMENTATION DISORDERS;

EID: 34548732241     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20569     Document Type: Article

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