Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.

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 beta chain. This mutation was without any hematological consequences.

Cite this paper

@article{Moradkhani2007HbN, title={Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.}, author={Kamran Moradkhani and Joan S Henthorn and Jean - François Riou and Lorraine O Phelan and Claude Pr{\'e}hu and Henri Wajcman}, journal={Hemoglobin}, year={2007}, volume={31 4}, pages={477-82} }