Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9

Gut

Volumn 45, Issue 6, 1999, Pages 829-833

  Rozen, P ^a   Samuel, Z ^a   Shomrat, R ^a   Legum, C ^a  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

Alternative splicing; APC gene; Familial adenomatous polyposis; Modifying genes; Phenotype variation

Indexed keywords

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; COLON POLYPOSIS; COLORECTAL CANCER; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE ISOLATION; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

EID: 0032712853     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.45.6.829     Document Type: Article

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