Cargando…
KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency
SIMPLE SUMMARY: Cerebral folate deficiency syndrome (CFD) was defined as any neurological condition that was associated with low concentrations of 5-methyltetrahydrofolate in the cerebrospinal fluid. Previous clinical studies have suggested that mutations in the folate receptor alpha (FOLR1) gene co...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9855468/ https://www.ncbi.nlm.nih.gov/pubmed/36671766 http://dx.doi.org/10.3390/biology12010074 |