Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene

American Journal of Human Genetics

Volumn 59, Issue 6, 1996, Pages 1193-1201

  Eccles, Diana M ^b   Van Der Luijt, Rob ^b   Breukel, Cor ^b   Bullman, Hilary ^b   Bunyan, David ^b   Fisher, Andrew ^b   Barber, John ^b   Du Boulay, Clair ^b   Primrose, John ^b   Burn, John ^b   Fodde, Riccardo ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANTIESTROGEN; DNA; PROTEIN;

ADENOMATOUS POLYP; ADULT; ALLELE; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CODON; DESMOID TUMOR; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL ENDOSCOPY; GENE; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; PEDIGREE; PENETRANCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ADOLESCENT; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CODON; FEMALE; FIBROMATOSIS, AGGRESSIVE; FRAMESHIFT MUTATION; GENES, APC; HUMANS; KARYOTYPING; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE;

EID: 19244364521     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. 1 to S phase. EMBO J 14:5618-5624
2. Breukel C, Tops C, van Leeuwen C, van der Klift H, Nakamura Y, Fodde R, Meera Khan P (1991) CA repeat polymorphism at the D5S82 locus, proximal to adenomatous polyposis coli (APC). Nucleic Acids Res 19:5804
3. Bulow S (1987) Familial polyposis coli. Dan Med Bull 34:115
4. Bunyan DJ, Shea-Simonds J, Reck AC, Finnis D, Eccles DM (1995) Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. J Med Genet 32:728-731
5. Bussey HJR (1975) Familial polyposis coli. Johns Hopkins University Press, Baltimore