Litcius/Paper detail

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia

Michael Svatoň, Karolina Škvárová Kramarzová, Veronika Kanderová, Andrea Mančíková, Petr Smíšek, Pavel Ješina, Jakub Krijt, Blanka Stibůrková, Robert Dobrovolný, Jitka Sokolová, Violeta Bakardjieva-Mihaylova, Elena Vodickova, Markéta Racková, Jan Stuchlý, Tomáš Kalina, Jan Starý, Jan Trka, Eva Froňková, Viktor Kožich

2020Blood22 citationsDOIOpen Access PDF

Topics & Concepts

Megaloblastic anemiaAnemiaMedicineFolic acidGeneInternal medicineBiologyGeneticsFolate and B Vitamins ResearchRNA modifications and cancerMetabolism and Genetic Disorders