Article
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Clinical biochemistry - 1 May 2021
Milanesio Berenice, Pepe Carolina, Defelipe Lucas A, Eandi Eberle Silvia, Avalos Gomez Vanesa, Chaves Alejandro, Albero Agustina, Aguirre Fernando, Fernandez Diego, Aizpurua Luciana, Paula Dieuzeide María, Turjanski Adrián, Bianchi Paola, Fermo Elisa, Feliu-Torres Aurora
Abstract excerpt
BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase deficiency. DESIGN AND METHODS: Routine hematologic investigations were...
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