Red blood cell PK deficiency: An update of PK-LR gene mutation database.

@article{Canu2016RedBC,
  title={Red blood cell PK deficiency: An update of PK-LR gene mutation database.},
  author={Giulia Canu and Maria Valeria De Bonis and Angelo Minucci and Ettore Capoluongo},
  journal={Blood cells, molecules & diseases},
  year={2016},
  volume={57},
  pages={
          100-9
        }
}
Pyruvate kinase (PK) deficiency is known as being the most common cause of chronic nonspherocytic hemolytic anemia (CNSHA). Clinical PK deficiency is transmitted as an autosomal recessive trait, that can segregate neither in homozygous or in a compound heterozygous modality, respectively. Two PK genes are present in mammals: the pyruvate kinase liver and red blood cells (PK-LR) and the pyruvate kinase muscle (PK-M), of which only the first encodes for the isoenzymes normally expressed in the… CONTINUE READING
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