CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Background Cerebral folate deficiency (CFD) syndrome is characterised by a low concentration of 5-methyltetrahydrofolate in cerebrospinal fluid, while folate levels in plasma and red blood cells are in the low normal range. Mutations in several folate pathway genes, including FOLR1 (folate receptor...

Descripción completa

Detalles Bibliográficos
Autores principales: Cao, Xuanye, Wolf, Annika, Kim, Sung-Eun, Cabrera, Robert M., Wlodarczyk, Bogdan J., Zhu, Huiping, Parker, Margaret, Lin, Ying, Steele, John W., Han, Xiao, Ramaekers, Vincent Th, Steinfeld, Robert, Finnell, Richard H., Lei, Yunping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895856/
https://www.ncbi.nlm.nih.gov/pubmed/32820034
http://dx.doi.org/10.1136/jmedgenet-2020-106987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895856/
https://www.ncbi.nlm.nih.gov/pubmed/32820034
http://dx.doi.org/10.1136/jmedgenet-2020-106987

Ejemplares similares