Two missense mutations in the β-globin gene can cause severe β thalassemia: Hemoglobin medicine lake (β32[b14]leucine→glutamine; 98 [fg5] valine→methionine)

M. B. Coleman, Z. H. Lu, C. M. Smith, J. G. Adams, A. Harrell, M. Plonczynski, M. H. Steinberg

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Biochemistry, Genetics and Molecular Biology