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pro vyhledávání: '"F. Nora Basack"'
Autor:
Alicia R. Bitsman, Viviana Varela, Karen G. Scheps, Sandra Pennesi, Daniel Freigeiro, Silvia M. De Paula, F. Nora Basack
Publikováno v:
Hemoglobin. 37(5)
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The