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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
- Source :
-
Blood [Blood] 2020 Jun 25; Vol. 135 (26), pp. 2427-2431. - Publication Year :
- 2020
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 1528-0020
- Volume :
- 135
- Issue :
- 26
- Database :
- MEDLINE
- Journal :
- Blood
- Publication Type :
- Report
- Accession number :
- 32276275
- Full Text :
- https://doi.org/10.1182/blood.2019003178