APC mutations in familial adenomatous polyposis families in the Northwest of England

Human Mutation

Volumn 10, Issue 5, 1997, Pages 376-380

  Armstrong, John G ^a   Davies, D Rhodri ^a   Guy, Simon P ^a   Frayling, Ian M ^b   Evans, D Gareth R ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b ST MARK S HOSPITAL   (United Kingdom)

Author keywords

APC gene; Familial adenomatous polyposis; Frameshift; Polyposis register; Single stranded conformation Polymorphism; Stop codon

Indexed keywords

ARTICLE; CONTROLLED STUDY; FAMILIAL COLON POLYPOSIS; FRAMESHIFT MUTATION; GARDNER SYNDROME; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PRIORITY JOURNAL; REGISTER; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; UNITED KINGDOM;

ADENOMATOUS POLYPOSIS COLI; CODON, TERMINATOR; ENGLAND; GENES, APC; HUMANS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; RNA, MESSENGER;

EID: 0030736616     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:5<376::AID-HUMU7>3.0.CO;2-D     Document Type: Article

References (5)

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2. Browne SJ, Williams AC, Hague A, Butt AJ, Paraskeva C (1994) Loss of APC protein expressed by human colonic epithelial cells and the appearance of a specific low-molecular weight form isassociated with apoptosis in vitro. Int J Cancer 59:56-64.
3. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Boher T, Augustin A, Kadnon M, Moslein G, Thomas G, Propping P (1995) Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic leisons (CHRPE) associated with APC mutation beyond codon 1444. Hum Mol Genet 4:337-340.
4. Caspari R, Friedl W, Mandl M, Moslein G, Kadmon M, Knapp M, Jacobasch K-H, Ecke K-W, Kreißler-Haag D, Timmermanns G, Propping P (1994) Familial adenomatous polyposis: Mutation at codon 1309 and early onset of colon cancer. Lancet 343:629-632.
5. Gayther S, Wells D, SenGupta S, Chapman P, Neale K, Tsioupra K, Delhanty JDA (1994) Regionally clustered APC mutations are associated with severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 3:53-56.