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Molecular Screening of the Hbs Constant Spring (codon 142,TAA>CAA, α2) and PAKSÉ (codon 142, TAA>TAT, α2) Mutations in Thailand

15 Nov 2010

Abstract excerpt

Hb Constant Spring [Hb CS, α142(H19)Term] and Hb Paksé [α142(H19)Term] occur from the mutation in the termination codon of the α2-globin gene, TAA>CAA (→Gln) and TAA>TAT (→Tyr), respectively. They are the most common nondeletional α-thalassemia (α-thal) variants causing Hb H disease in Southeast Asia. In this study, 587 cord blood samples were screened for the Hb CS and Hb Paksé mutations by a dot-blot...

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Identifiers

PMID: 21077767
DOI: 10.3109/03630269.2010.526914

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