APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis-Reference-Cited by-同舟云学术

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APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis

Published:1995-12 Issue:6 Volume:96 Page:705-710
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

van der Luijt Rob B.,Vasen Hans F. A.,Tops Carli M. J.,Breukel Cor,Fodde Riccardo,Khan P. Meera

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00210303.pdf

Reference31 articles.

1. Bourne HR (1991a) Consider the coiled coil. Nature 351:188?190

2. Bourne HR (1991b) Suppression with a difference. Nature 353:696?697

3. Caspari R, Friedl W, Mandl M, Möslein G, Kadmon M, Knapp M, Jacobasch K-H, Ecker K-W, Kreissler-Haag D, Timmermanns O, Propping P (1994) Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 343:629?632

4. Fodde R, Luijt R van der, Wijnen J, Tops C, Klift H van der, Leeuwen-Cornelisse I van, Griffioen G, Vasen H, Meera Khan P (1992) Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 13:1162?1168

5. Gayther SA, Wells D, SenGupta SB, Chapman P, Neale K, Tsioupra K, Delhanty JDA (1994) Regionally clustered APC mutations are associated with a severe phenotype and occur at high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 3:53?56

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1. A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature;Medicina;2022-08-18

2. Attenuated Familial Adenomatous Polyposis;Diseases of the Colon & Rectum;2021-10-29

3. CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC;Hereditary Cancer in Clinical Practice;2021-04-29

4. A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis;BMC Medical Genomics;2021-03-19

5. An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes;Frontiers in Genetics;2020-03-04

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