A New Mutation in IVS-1 of the Human Globin Gene Causing $ Thalassemia
نویسندگان
چکیده
A G to T transversion at the fifth nucleotide of the first intervening sequence (IVS-1 ) of the $-globin gene has been identified in cloned fi-thalassemia genes of two unrelated individuals. one of Mediterranean and the other of Anglo Saxon ancestry. In each patient the mutation was present in a different globin gene framework. defined by intragenic restriction site polymorphisms. thereby suggesting the occurrence of independent mutations. The study of the RNA products of one of these cloned genes, after transfer
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