Associated Papers
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.
Kircher M et al.
Nature Communications, 2019
31395865 (PubMed )
Supplement: 41467_2019_11526_MOESM1_ESM.pdf
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
van Wijk R et al.
Human Mutation, 2009
Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.
van Wijk R et al.
British Journal of Haematology, 2007
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.
van Wijk R et al.
Blood, 2003
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