Associated Papers
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM et al.
Annals of Hematology, 2020
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch N et al.
European Journal of Haematology, 2018
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.
Gupta N et al.
Prenatal Diagnosis, 2007
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.
Manco L et al.
British Journal of Haematology, 2000
Novel mutations associated with pyruvate kinase deficiency in Brazil.
Svidnicki MCCM et al.
Hematology, Transfusion and Cell Therapy, 0
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