Methods for detection of ataxia telangiectasia mutations
作者： Richard A. Gatti
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摘要: The present invention is directed to a method of screening large, complex, polyexonic eukaryotic genes such as the ATM gene for mutations and polymorphisms by an improved version single strand conformation polymorphism (SSCP) electrophoresis that allows two or three amplified segments in lane. also new are useful performing more accurate human DNA samples distinguishing from polymorphisms, thereby improving efficiency automated methods.
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google.nl 参考文章(39)
T. Stankovic, C. M. McConville, P. J. Byrd, M. R. Taylor, Q. Y. Yao, G. G. Lennox, G. M. McGuire, Mutations associated with variant phenotypes in ataxia-telangiectasia. American Journal of Human Genetics. ,vol. 59, pp. 320- 330 ,(1996)
Hans D. Ochs, Suna Onengut, Sharon Teraoka, Richard A. Gatti, Aslihan Tolun, Jocyndra Wright, Patrick Concannon, A high frequency of distinct ATM gene mutations in ataxia-telangiectasia American Journal of Human Genetics. ,vol. 59, pp. 839- 846 ,(1996)
E. Bernatowska-Matuszkiewicz, R. A. Gatti, T. Liang, P. Concannon, M. Lavin, N. Udar, M. Telatar, Z. Wang, Y. Shiloh, R. A. Good, Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. American Journal of Human Genetics. ,vol. 59, pp. 40- 44 ,(1996)
Patrick J. Concannon, Richard A. Gatti, Ataxia-telangiectasia: mutations in the ATM gene ,(1997)
Laurence N. Kolonel, Frank Z. Stanczyk, Nick Makridakis, Malcolm C. Pike, Juergen K. V. Reichardt, Mimi C. Yu, Lilly Chang, Brian E. Henderson, Chen-Yang Shi, Ronald K. Ross, A Prevalent Missense Substitution That Modulates Activity of Prostatic Steroid 5α-Reductase Cancer Research. ,vol. 57, pp. 1020- 1022 ,(1997)
Lance Fors, Laura M. Heisler, Mary Ann D. Brow, Rapid detection of mutations in the p53 gene ,(1995)
Yosef Shiloh, Francis S. Collins, Danilo A. Tagle, Mutated proteins associated with ataxia-telangiectasia ,(1995)
Matthias Platzer, Galit Rotman, David Bauer, Tamar Uziel, Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Yosef Shiloh, André Rosenthal, Ataxia-Telangiectasia Locus: Sequence Analysis of 184 kb of Human Genomic DNA Containing the Entire ATM Gene Genome Research. ,vol. 7, pp. 592- 605 ,(1997) , 10.1101/GR.7.6.592
Yosef Shiloh, Ataxia-telangiectasia gene and its genomic organization ,(1996)