Associated Papers
Case Report: Importance of high-throughput genetic investigations in the differential diagnosis of unexplained erythrocytosis.
Nagy ZF et al.
Pathology Oncology Research : Por, 2025
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.
van Bruggen R et al.
Plos One, 2015
Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
van Oirschot BA et al.
American Journal of Hematology, 2014
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
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