MUTYH mutations associated with familial adenomatous polyposis: Functional characterization by a mammalian cell-based assay

Human Mutation

Volumn 31, Issue 2, 2010, Pages 159-166

  Molatore, Sara ^a   Russo, Maria Teresa ^b   D'Agostino, Vito G ^a   Barone, Flavia ^b   Matsumoto, Yoshihiro ^c   Albertini, Alessandra M ^a   Minoprio, Anna ^b   Degan, Paolo ^d   Mazzei, Filomena ^b   Bignami, Margherita ^b   Ranzani, Guglielmina Nadia ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c FOX CHASE CANCER CENTER   (United States)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

Functional analysis; Mammalian cell assay; MUTYH gene mutations; MUTYH associated polyposis; Unclassified variants

Indexed keywords

8 HYDROXYGUANINE; DNA GLYCOSYLASE MUTY; DNA GLYCOSYLTRANSFERASE;

ADENOMATOUS POLYP; ANALYTICAL PARAMETERS; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; EXCISION REPAIR; FAMILIAL ADENOMATOUS POLYPOSIS; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; HYPERSENSITIVITY; IN VITRO STUDY; IN VIVO STUDY; MAMMAL CELL; MOUSE; NONHUMAN; OXIDATIVE STRESS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; WILD TYPE;

ADENOMATOUS POLYPOSIS COLI; ANIMALS; BROMATES; CELL DEATH; CELL LINE; DEOXYGUANOSINE; DNA GLYCOSYLASES; DNA REPAIR; ENZYME ASSAYS; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; GAMMA RAYS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KINETICS; MICE; MUTANT PROTEINS; MUTATION; PROTEIN TRANSPORT;

ESCHERICHIA COLI; MAMMALIA;

EID: 75149135256     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21158     Document Type: Article

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