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Article

Molecular bases of hexokinase deficiency.

Biochimica et biophysica acta - 24 May 1997

Bianchi M, Crinelli R, Serafini G, Giammarini C, Magnani M

Abstract excerpt

Hexokinase (ATP: D-hexose 6-phosphotransferase, EC 2.7.1.1; HK) deficiency is a rare disease where the predominant clinical effect is nonspherocytic hemolytic anemia. We have previously shown that the only patient for which hexokinase deficiency has been so far investigated at molecular level is a double heterozygote carrying a T1667 --> C substitution on one HK type I allele and a 96 bp deletion (concerning...

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PMID: 9197463
DOI: 10.1016/s0925-4439(96)00080-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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