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Autor:
Cornelis L. Harteveld, Peter van Delft, Piero C. Giordano, Akosua Addo-Daaku, Margaretha J. Sander, Irene H. Van Rooijen‐Nijdam, Peter J.M.J. Kok
Publikováno v:
Hemoglobin. 31:167-171
We report a semi dominant beta-thalassemia (thal) phenotype caused by the rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] mutation in combination with an alpha gene triplication. This combination of two rare mutations was observed during h