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Molecular heterogeneity of pyruvate kinase deficiency

Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is characterized by molecular and clinical heterogeneity; a...

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Detalhes bibliográficos
Publicado no:Haematologica
Main Authors: Bianchi, Paola, Fermo, Elisa
Formato: Artigo
Idioma:Inglês
Publicado em: Fondazione Ferrata Storti 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7556514/
https://ncbi.nlm.nih.gov/pubmed/33054047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2019.241141
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