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Literature DB >> 31119733

A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.

Manu Jamwal¹, Anu Aggarwal¹, Arindam Palodi², Prashant Sharma¹, Deepak Bansal³, Arindam Maitra², Reena Das¹.

Abstract

Entities: Disease Gene

Keywords: haemolytic anaemia; hexokinase deficiency; inherited anaemias; molecular diagnosis

Year: 2019 PMID： 31119733 DOI： 10.1111/bjh.15981

Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998

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1 in total

1. Sex-specific genetic modifiers identified susceptibility of cold stored red blood cells to osmotic hemolysis.

Authors: Fang Fang; Kelsey Hazegh; Alan E Mast; Darrell J Triulzi; Bryan R Spencer; Mark T Gladwin; Michael P Busch; Tamir Kanias; Grier P Page
Journal: BMC Genomics Date: 2022-03-23 Impact factor: 3.969

1 in total