A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
Language English Country United States Media print
Document type Case Reports, Letter, Research Support, Non-U.S. Gov't
PubMed
32276275
PubMed Central
PMC7330012
DOI
10.1182/blood.2019003178
PII: S0006-4971(20)75931-8
Knihovny.cz E-resources
- MeSH
- Clone Cells MeSH
- K562 Cells MeSH
- CRISPR-Cas Systems MeSH
- Gene Knockout Techniques MeSH
- Homozygote MeSH
- Hyperhomocysteinemia drug therapy genetics MeSH
- Cells, Cultured MeSH
- Folic Acid therapeutic use MeSH
- Humans MeSH
- Anemia, Megaloblastic drug therapy genetics MeSH
- Adolescent MeSH
- Frameshift Mutation MeSH
- Recurrence MeSH
- Sequence Deletion MeSH
- Exome Sequencing MeSH
- Sodium-Hydrogen Exchanger 1 deficiency genetics MeSH
- Vitamin B 12 therapeutic use MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Letter MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Folic Acid MeSH
- SLC9A1 protein, human MeSH Browser
- Sodium-Hydrogen Exchanger 1 MeSH
- Vitamin B 12 MeSH
Department of Cell Biology Faculty of Science Charles University Prague Czech Republic
Department of Clinical Hematology University Hospital Motol Prague Czech Republic
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