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Molecular characterisation of pyruvate kinase deficiency – concerns about the description of mutant PKLR alleles
Authors:Richard van Wijk  Gert Rijksen   Wouter W. van Solinge
Affiliation:Laboratory for Red Blood Cell Research, Department of Clinical Chemistry and Haematology, University Medical Centre Utrecht, Utrecht, the Netherlands.
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Keywords:pyruvate kinase deficiency    haemolytic anaemia    mutation nomenclature
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