Article
Hexokinase mutations that produce nonspherocytic hemolytic anemia.
Blood cells, molecules & diseases - 1 Jan 1995
Bianchi M, Magnani M
Abstract excerpt
Among glycolytic enzyme defects, hexokinase (ATP: D-hexose 6-phosphotransferase, EC 2.7.1.1; HK) deficiency is a very rare disease where the predominant clinical effect is nonspherocytic hemolytic anemia. Here we report the characterization at molecular level of the HK type I cDNA from a patient with hemolytic anemia due to hexokinase deficiency. PCR amplification and sequence of the cDNA revealed the presence of...
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