First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis
Author:
Publisher
Ferrata Storti Foundation (Haematologica)
Subject
Hematology
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family;Journal of Clinical Pathology;2020-12-25
2. Hypothesis: A Novel Neuroprotective Role for Glucose-6-phosphatase (G6PC3) in Brain—To Maintain Energy-Dependent Functions Including Cognitive Processes;Neurochemical Research;2020-08-19
3. A nonsense variant in the Hexokinase 1 gene ( HK 1 ) causing severe non‐spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms;British Journal of Haematology;2019-05-23
4. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment;European Journal of Human Genetics;2019-02-18
5. A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India;Cureus;2018-04-13
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