Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

Summary Introduction Pyruvate kinase (PK) deficiency is one of the most common hereditary nonspherocytic hemolytic anemias worldwide with clinical manifestations ranging from mild to severe hemolysis. However, investigation of this enzymopathy is lacking in Tunisia. We report here a pioneer investig...

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Bibliographic Details
Published in:	International Journal of Laboratory Hematology Vol. 39; no. 2; pp. 223 - 231
Main Authors:	Jaouani, M., Manco, L., Kalai, M., Chaouch, L., Douzi, K., Silva, A., Macedo, S., Darragi, I., Boudriga, I., Chaouachi, D., Fitouri, Z., Van Wijk, R., Ribeiro, M. L., Abbes, S.
Format:	Journal Article
Language:	English
Published:	England Wiley Subscription Services, Inc 01-04-2017 Wiley
Subjects:	Anemia Anemia, Hemolytic - etiology Anemia, Hemolytic - genetics Anemia, Hemolytic, Congenital Nonspherocytic - etiology Anemia, Hemolytic, Congenital Nonspherocytic - genetics DNA Mutational Analysis DNA sequencing Erythrocytes Erythrocytes - enzymology Genetic Association Studies Genetic disorders genotype–phenotype correlation Hemolysis Hemolytic anemia Human health and pathology Humans Laboratories Life Sciences Missense mutation Models, Molecular Molecular modelling Mutation Mutation, Missense - genetics Neonates PKLR mutations Pyruvate kinase Pyruvate Kinase - deficiency Pyruvate Kinase - genetics Pyruvate Metabolism, Inborn Errors - etiology Pyruvate Metabolism, Inborn Errors - genetics Pyruvic acid Studies Tunisia - epidemiology Tunisian families Tunisian families PKLR mutations Pyruvate kinase deficiency genotype-phenotype correlation hemolytic anemia
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