Screening for mutations of the APC gene in 66 italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation

Human Mutation

Volumn 13, Issue 2, 1999, Pages 116-123

  Giarola, Monica ^a   Stagi, Lisa ^a   Presciuttini, Silvano ^b   Mondini, Patrizia ^a   Radice, Maria T ^a   Sala, Paola ^a   Pierotti, Marco A ^a   Bertario, Lucio ^a   Radice, Paolo ^a  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

APC; Familial adenomatous polyposis; Germline mutations; Phenotypic variability

Indexed keywords

ADENOMATOUS POLYP; ARTICLE; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADOLESCENT; ADULT; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; EXONS; FEMALE; GENETIC SCREENING; GENOTYPE; GERM-LINE MUTATION; HUMANS; ITALY; MALE; MIDDLE AGED; PHENOTYPE;

EID: 0032962869     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<116::AID-HUMU3>3.0.CO;2-2     Document Type: Article

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