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- W2008574334 abstract "We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α(+)-thalassemia (α(+)-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis." @default.
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- W2008574334 date "2012-06-01" @default.
- W2008574334 modified "2023-09-24" @default.
- W2008574334 title "Identification of a New HBA1 Gene Mutation (HBA1:c.301-2A>T) inCiswith Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]" @default.
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- W2008574334 doi "https://doi.org/10.3109/03630269.2012.700897" @default.
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