Introns and exons of the cystic fibrosis gene and mutations at various positions of the gene
作者： LC Tsui , Johanna Rommens , Bat-Sheva Kerem
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摘要: The cystic fibrosis gene and its product are described for mutant forms. genetic protein information is used in developing DNA diagnosis, carrier patient screening, cloning of the manufacture protein, development affected animals.
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lens.org 参考文章(8)
H. Hugh Fudenberg, Gregory B. Wilson, Method of diagnosing cystic fibrosis patients and asymptomatic carrier of the cystic fibrosis gene ,(1980)
James W. Schumm, Lap-Chee Tsui, Manuel Buchwald, Robert G. Knowlton, Helen Donis Keller, Jeffrey C. Braman., David F. Barker, Means and method of testing for cystic fibrosis based on genetic linkage ,(1986)
B. S. Kerem, J. Zielenski, D. Markiewicz, D. Bozon, E. Gazit, J. Yahav, D. Kennedy, J. R. Riordan, F. S. Collins, J. M. Rommens, Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 87, pp. 8447- 8451 ,(1990) , 10.1073/PNAS.87.21.8447
B. Singer, L.G. Abbott, S.J. Spengler, Assessment of mutagenic efficiency of two carcinogen-modified nucleosides, 1,N6-ethenodeoxyadenosine and O4-methyldeoxythymidine, using polymerases of varying fidelity Carcinogenesis. ,vol. 5, pp. 1165- 1171 ,(1984) , 10.1093/CARCIN/5.9.1165
Riordan, J. Rommens, B Kerem, N Alon, R Rozmahel, Z Grzelczak, J Zielenski, S Lok, N Plavsic, J. Chou, al. et, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. ,vol. 245, pp. 1066- 1073 ,(1989) , 10.1126/SCIENCE.2475911
Michael Dean, Marga B. White, Jean Amos, Bernard Gerrard, Claudia Stewart, Kon-Taik Khaw, Mark Leppert, Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients Cell. ,vol. 61, pp. 863- 870 ,(1990) , 10.1016/0092-8674(90)90196-L
B Kerem, J. Rommens, J. Buchanan, D Markiewicz, T. Cox, A Chakravarti, M Buchwald, L. Tsui, Identification of the cystic fibrosis gene: genetic analysis. Science. ,vol. 245, pp. 1073- 1080 ,(1989) , 10.1126/SCIENCE.2570460
Robert Williamson, Materials and methods for the diagnosis of cystic fibrosis ,(1988)