Article
Beta-thalassemia intermedia and IVS-1 NT6 homozygosis in Brazil.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jan 1991
Costa F F, Tavella M H, Zago M A
Abstract excerpt
1. The molecular abnormality of a patient with thalassemia intermedia was identified by DNA amplification (PCR) combined with the use of synthetic oligonucleotide probes. 2. The patient is a homozygote for the T----C substitution at position 6 of the first intervening sequence (IVS1-6) of the beta globin gene. 3. On the basis of this finding, the family, which had been previously reported by us to be a carrier of...
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