Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein-Reference-Cited by-同舟云学术

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Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

Published:1996-05 Issue:5 Volume:97 Page:579-584
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Friedl W.,Meuschel S.,Lamberti C.,Sengteller M.,Propping P.,Caspari R.,Krieger S.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF02281864.pdf

Reference37 articles.

1. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Sheer D, Solomon E, Spurr NK (1987) Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328: 614–616

2. Caspari R, Friedl W, Mandl M, Möslein G, Kadmon M, Knapp M, Jacobasch K-H, Ecker 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

3. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T, Augustin A, Kadmon M, Möslein G, Thomas G, Propping P (1995) Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4:337–340

4. Evans DGR, Guy SP, Thakker N, Armstrong JG, Dodd C, Davies DR, Babbs C, Clancy T, Warnes T, Sloan P, Taylor TV, Harris R (1993) Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis. Gut 43:1389–1393

5. Gayther SA, Wells D, SenGupta SB, 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

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