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beta-Spectrin Campinas: A novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis
(Blackwell Science LtdOxfordInglaterra, 1997)
beta-Spectrin S-ta Barbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism
(Blackwell Science LtdOxfordInglaterra, 2001)
New frameshift mutation in the 5 alpha-reductase type 2 gene in a Brazilian patient with 5 alpha-reductase deficiency
(Wiley-lissNew YorkEUA, 1999)
Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia
(Wiley, 2014-10)
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 ...