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1. Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val].

Author

Grosso M, Palumbo I, Morelli E, Puzone S, Sessa R, and Izzo P

Subjects
Codon, Female, Hemoglobins metabolism, Heterozygote, Humans, Leucine chemistry, Male, Models, Genetic, Pedigree, Phenotype, Sequence Analysis, DNA, Valine chemistry, Hemoglobins, Abnormal genetics, Mutation, beta-Thalassemia diagnosis, beta-Thalassemia genetics
Published
2008
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