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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Fondazione Ferrata Storti
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556514/ https://www.ncbi.nlm.nih.gov/pubmed/33054047 http://dx.doi.org/10.3324/haematol.2019.241141 |