Article
Detection of point mutations associated with genetic diseases by an exon scanning technique.
Genomics - 1 Dec 1990
Kaufman D L, Ramesh V, McClatchey A I, Menkes J H, Tobin A J
Abstract excerpt
A major challenge in genetics is identifying the basis of human heritable disease. We describe an "exon scanning" technique which surveys exons in genomic DNA for sequence alterations. By hybridizing genomic DNA to RNA probes derived from cDNAs, we can use RNase A to survey entire coding regions, comprising exons spread across extensive regions of genomic DNA, for mutations associated with genetic disease. Exon...
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