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PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.

Blood cells, molecules & diseases - 1 Jul 2024

Maciak Karolina, Jurkiewicz Aneta, Strojny Wojciech, Adamowicz-Salach Anna, Romiszewska Magdalena, Jackowska Teresa, Kwiecinska Kinga, Poznanski Jaroslaw, Gora Monika, Burzynska Beata

Abstract excerpt

Pyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene...

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PMID: 38581917
DOI: 10.1016/j.bcmd.2024.102841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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