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N Engl J Med In New England Journal of Medicine, Vol. 333, No. 10. (7 September 1995), pp. 645-647, doi:10.1056/nejm199509073331008 Key: citeulike:12091833
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Hardly a month goes by without a report that some new gene for a human disease has been cloned. Recently, for example, the genes responsible for ataxia?telangiectasia and early-onset Alzheimer's disease were isolated. In the final analysis, such studies always come down to a DNA sequence and whatever biologic function (or functions) we can infer from it. In other words, we may know from genetic-linkage studies that a particular gene sequence (in mutated form) is responsible for a disease, but what clues can a DNA sequence provide about the precise pathophysiology of that disease? Overwhelmingly, the answer now lies in . . .
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