Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques
作者： Viviana Gismondi , Anna Bafico , Roberta Biticchi , Simona Pedemonte , Francesco Molina
DOI: 10.1002/(SICI)1098-1004(1997)9:4<370::AID-HUMU14>3.0.CO;2-#
关键词:
摘要:
elsevier.com
sci-hub.se 参考文章(31)
Lisa Spirio, Liliana Varesco, Margaret Robertson, Robert Weiss, G. B. Ferrara, Joanna Groden, Ray White, Viviana Gismondi, A rapid screening method to detect nonsense and frameshift mutations: identification of disease-causing APC alleles. Cancer Research. ,vol. 53, pp. 5581- 5584 ,(1993)
P Laurent-Puig, G Thomas, R White, J Groden, S Olschwang, Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. American Journal of Human Genetics. ,vol. 52, pp. 273- 279 ,(1993)
Wade Samowitz, Lisa Spirio, Mark Leppert, Andrew Thliveris, Margaret Robertson, Lawrence Gelbert, Lesa Nelson, Randall Burt, Geoff Joslyn, Ray White, Mary Carlson, Joanna Groden, Mutational analysis of patients with adenomatous polyposis : identical inactivating mutations in unrelated individuals American Journal of Human Genetics. ,vol. 52, pp. 263- 272 ,(1993)
L. Bertario, L. Varesco, G. Biasco, R. Sassatelli, A. Bafico, L. De Benedetti, M. Ponz de Leon, M. Robertson, P. Grammatico, P. Sala, H. Aste, A. Sciarra, L. Casarino, G. B. Ferrara, S. De Sanctis, R. James, C. Rossetti, G. Del Porto, R. White, A. Allegretti, M. T. Illeni, V. Gismondi, J. Groden, Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. American Journal of Human Genetics. ,vol. 52, pp. 280- 285 ,(1993)
Tayebeh Hamzehloei, Sarah P. West, Pam D. Chapman, John Burn, Ann Curtis, Four novel germ-line mutations in the APC gene detected by heteroduplex analysis Human Molecular Genetics. ,vol. 3, pp. 1023- 1024 ,(1994) , 10.1093/HMG/3.6.1023
KW Kinzler, I Nishisho, Y Nakamura, Y Miyoshi, Y Miki, H Ando, A Horii, K Koyama, J Utsunomiya, S Baba, P Hedge, A Markham, AJ Krush, G Petersen, SR Hamilton, MC Nilbert, DB Levy, TM Bryan, AC Preisinger, KJ Smith, LK Su, B Vogelstein, Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients Science. ,vol. 253, pp. 665- 669 ,(1991) , 10.1126/SCIENCE.1651563
M. Mandl, R. Paffenholz, W. Friedl, R. Caspari, M. Sengteller, P. Propping, Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis Human Molecular Genetics. ,vol. 3, pp. 181- 184 ,(1994) , 10.1093/HMG/3.1.181
Joanna Groden, Andrew Thliveris, Wade Samowitz, Mary Carlson, Lawrence Gelbert, Hans Albertsen, Geoff Joslyn, Jeff Stevens, Lisa Spirio, Margaret Robertson, Leslie Sargeant, Karen Krapcho, Erika Wolff, Randall Burt, J.P. Hughes, Janet Warrington, John McPherson, John Wasmuth, Denis Le Paslier, Hadi Abderrahim, Daniel Cohen, Mark Leppert, Ray White, Identification and characterization of the familial adenomatous polyposis coli gene Cell. ,vol. 66, pp. 589- 600 ,(1991) , 10.1016/0092-8674(81)90021-0
David J. Koorey, Geoffrey W. McCaughan, Ronald J. Trent, Neil D. Gallagher, Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families. Human Mutation. ,vol. 3, pp. 12- 18 ,(1994) , 10.1002/HUMU.1380030103
Philip Paul, Tom Letteboer, Larry Gelbert, Joanna Groden, Ray White, Max J. Coppes, Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis Human Molecular Genetics. ,vol. 2, pp. 925- 931 ,(1993) , 10.1093/HMG/2.7.925