Molecular and cellular analysis of a novel HBA2 mutation (HBA2: C.94A>G) shows activation of a cryptic splice site and generation of a premature termination codon

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Molecular and cellular analysis of a novel HBA2 mutation (HBA2: C.94A>G) shows activation of a cryptic splice site and generation of a premature termination codon

In this study, we describe the clinical features and provide experimental analyses of a novel point mutation affecting the penultimate nucleotide of the first exon of the HBA2 (HBA2: c.94A>G) gene identified in a 26-year-old female who also carries a heterozygous Hb E (HBB: c.79G>A) va...

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Bibliographic Details
Main Authors:	Qadah, T., Finlayson, J., Joly, P., Ghassemifar, Reza
Format:	Journal Article
Published:	2014
Online Access:	http://hdl.handle.net/20.500.11937/6903

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