Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Milanesio B, Pepe C, Defelipe LA, Eandi Eberle S, Avalos Gomez V, Chaves A, Albero A, Aguirre F, Fernandez D, Aizpurua L, Paula Dieuzeide M, Turjanski A, Bianchi P, Fermo E, Feliu-Torres A.
Milanesio B, et al. Among authors: defelipe la.
Clin Biochem. 2021 May;91:26-30. doi: 10.1016/j.clinbiochem.2021.02.003. Epub 2021 Feb 23.
Clin Biochem. 2021.
PMID: 33631127