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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 4
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Short Communication

Hb Niigata [β1(Na1)Val→Leu] in a Romanian Individual Resulting from Another Nucleotide Substitution than that Found in the Japanese

, , , , &
Pages 477-482 | Received 15 Mar 2007, Accepted 23 May 2007, Published online: 07 Jul 2009
 

Abstract

We present a new case of Hb Niigata that we named Hb Niigata(C), observed in a woman from Romania, with a mutation different from that described in Japanese (GTG→CTG instead of GTG→TTG). This single nucleotide substitution replaces the valine residue for leucine at codon 1 and causes retention of the N-terminal methionine leading to an elongated β chain. This mutation was without any hematological consequences.

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