Associated Papers
A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.
Bartnik M et al.
Genes, 2024
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM et al.
British Journal of Haematology, 2024
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V et al.
European Journal of Human Genetics : Ejhg, 2019
Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.
Koralkova P et al.
Blood Cells, Molecules & Diseases, 2016
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