A novel Indian β-Thalassemia mutation: Hb lucknow [β 8(A5)lys→Arg]

Agarwal, S. ; Hattori, Y. ; Gupta, U. R. ; Agarwal, S. S. (1999) A novel Indian β-Thalassemia mutation: Hb lucknow [β 8(A5)lys→Arg] Hemoglobin, 23 (3). pp. 263-265. ISSN 0363-0269

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Official URL: http://informahealthcare.com/doi/abs/10.3109/03630...

Related URL: http://dx.doi.org/10.3109/03630269909005707

Abstract

This paper reports a new A→G base substitution identified in exon 1 of the β-globin gene at codon 8, which we have designated Hb Lucknow [β 8(A5)Lys→Arg] after the place of residence of the proband. This nucleotide change is associated with the IVS+5 (G→C) mutation and is speculated to produce a thalassemia intermedia phenotype in the subject.

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Deposited On:17 Sep 2010 09:18
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