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Biallelic variation in the choline and ethanolamine transporter FLVCR1underlies a severe developmental disorder spectrum
- Source :
- Genetics in Medicine; 20240101, Issue: Preprints
- Publication Year :
- 2024
-
Abstract
- FLVCR1encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1−/−mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1variants in humans have previously only been linked to childhood or adult-onset ataxia, sensory neuropathy, and retinitis pigmentosa.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Issue :
- Preprints
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs67436561
- Full Text :
- https://doi.org/10.1016/j.gim.2024.101273