Article
A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
Neonatology - 1 Jan 2014
Yaish Hassan M, Nussenzveig Roberto H, Agarwal Archana M, Siddiqui Abdul H, Christensen Robert D
Abstract excerpt
We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an...
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