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

Autor: Maciak, Karolina, Jurkiewicz, Aneta, Strojny, Wojciech, Adamowicz-Salach, Anna, Romiszewska, Magdalena, Jackowska, Teresa, Kwiecinska, Kinga, Poznanski, Jaroslaw, Gora, Monika, Burzynska, Beata
Zdroj: In Blood Cells, Molecules and Diseases July 2024 107
Databáze: ScienceDirect