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Autor:
Felisa N. Basack, Gustavo Parisi, Karen G. Scheps, Marcia Anahí Hasenahuer, Viviana Varela, Beatriz Erramouspe, Luis Aversa, Ernesto Samuel Veber, Sandra Pennesi, María Silvina Fornasari, Graciela Elena
Publikováno v:
European Journal of Haematology. 94:498-503
We describe here the molecular and hematological characteristics of novel frameshift mutations in exon 2 of the HBB gene (in heterozygous state) found in two Argentinean pediatric patients with dominant b-thalassemia-like features. In Hb Wilde, HBB:c