Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene
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DOI: 10.1080/03630269.2017.1311911
Abstract: Abstract Patients with hyperunstable α chain variants usually present with a thalassemic, rather than hemolytic, phenotype. Electrophoretic, ion exchange and reverse phase separations usually fail to detect the variant and when DNA sequencing identifies a… read more here.
Keywords: ile hba1; mutation gene; b13 met; new mutation ... See more keywords