Article
Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.
Nature - 1 Jan 2000
Kazazian H H, Orkin S H, Markham A F, Chapman C R, Youssoufian H, Waber P G
Abstract excerpt
It has been suggested that there is a close linkage between specific restriction fragment polymorphism patterns, defined as haplotypes, in the beta-globin gene cluster and specific mutations in Mediterranean people with thalassaemia. This association formed the basis of a strategy for the efficient characterization of beta-thalassaemia mutations from the DNA sequence of one or two beta-thalassaemia genes derived...
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