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

  • Blood. 2020 Jun 25;135(26):2427-2431. doi: 10.1182/blood.2019003178.
Michael Svaton  1 ,  Karolina Skvarova Kramarzova  1 ,  Veronika Kanderova  1 ,  Andrea Mancikova  2 ,  Petr Smisek  3 ,  Pavel Jesina  4 ,  Jakub Krijt  4 ,  Blanka Stiburkova  4  5 ,  Robert Dobrovolny  4 ,  Jitka Sokolova  4 ,  Violeta Bakardjieva-Mihaylova  1 ,  Elena Vodickova  6 ,  Marketa Rackova  1 ,  Jan Stuchly  1 ,  Tomas Kalina  1 ,  Jan Stary  3 ,  Jan Trka  1 ,  Eva Fronkova  1 ,  Viktor Kozich  4
Affiliations
  • 1. Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • 2. Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic.
  • 3. Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • 4. Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • 5. Institute of Rheumatology, Prague, Czech Republic; and.
  • 6. Department of Clinical Hematology, University Hospital Motol, Prague, Czech Republic.
PMID: 32276275 DOI: 10.1182/blood.2019003178