Date : December 12, 1994
H.T. Orr, M. Chung, S. Banfi, T.J. Kwiatkowski, Jr., A. Servadio, A.L. Beaudet, A.E. McCall, L.A. Duvick, L.P.W. Ranum, H.Y. Zoghbi, "Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1," Nature Genetics, 4:221-26, 1993. (Cited in 114 publications through October 1994)
The subject of this paper, the genetic basis of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1), has been the focus of an ongoing collaboration between the laboratories of Harry Orr at the University of Minnesota, Minneapolis, and Huda Zoghbi at Baylor College of Medicine in Houston.
"It demonstrates that the DNA mutation that causes SCA1 is the expansion of an unstable trinucleotide--CAG, in this case--repeat in the coding region of the gene for a protein called ataxin 1," explains Orr, who is a professor of laboratory medicine and pathology and a member of the Institute of Human Genetics at Minnesota.
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