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Start Over Descriptor "Sodium-Hydrogen Exchanger 1 deficiency" Topic folic acid

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

Author

Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, and Kozich V

Subjects
Adolescent, Anemia, Megaloblastic drug therapy, CRISPR-Cas Systems, Cells, Cultured, Clone Cells, Frameshift Mutation, Gene Knockout Techniques, Homozygote, Humans, Hyperhomocysteinemia drug therapy, K562 Cells, Male, Recurrence, Sequence Deletion, Sodium-Hydrogen Exchanger 1 genetics, Vitamin B 12 therapeutic use, Exome Sequencing, Anemia, Megaloblastic genetics, Folic Acid therapeutic use, Hyperhomocysteinemia genetics, Sodium-Hydrogen Exchanger 1 deficiency
Published
2020
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