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- W2009925329 abstract "We present the first description of Chinese individuals with the β-thalassemia (β-thal) mutation IVS-I-6 (T > C) (HBB: c.92 + 6T > C). This mutation interferes with mRNA splicing and results in reducing expression of β-globin chains that leads to a β+-thal phenotype. The β-globin haplotype anlaysis revealed the IVS-I-6 mutation in our case was linked with haplotype VI [− + + − − − +] and had Mediterranean characteristics." @default.
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- W2009925329 date "2015-04-09" @default.
- W2009925329 modified "2023-09-22" @default.
- W2009925329 title "First Detection of a Splice Siteβ-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family" @default.
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- W2009925329 doi "https://doi.org/10.3109/03630269.2015.1027826" @default.
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