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Br J Haematol. 2019 May 23. doi: 10.1111/bjh.15981. [Epub ahead of print]

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

Author information

1
Department of Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
2
National Institute of Biomedical Genomics, Kalyani, West Bengal, India.
3
Haematology-Oncology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

KEYWORDS:

haemolytic anaemia; hexokinase deficiency; inherited anaemias; molecular diagnosis

PMID:
31119733
DOI:
10.1111/bjh.15981

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