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...

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Detalles Bibliográficos
Autores principales: Han, Xiao, Cao, Xuanye, Cabrera, Robert M., Pimienta Ramirez, Paula Andrea, Zhang, Cuilian, Ramaekers, Vincent T., Finnell, Richard H., Lei, Yunping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9855468/
https://www.ncbi.nlm.nih.gov/pubmed/36671766
http://dx.doi.org/10.3390/biology12010074

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