Two Novel Intronic Mutations in the CSF1R Gene in Two Families With CSF1R-Microglial Encephalopathy

Objective: To describe two novel heterozygous splicing variants of the CSF1R gene responsible for CSF1R-microglial encephalopathy in two unrelated Han Chinese families and further explore the relationship between the pathological and neuroimaging findings in this disease. Methods: The demographic da...

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Detalles Bibliográficos
Autores principales: Jiang, Jiwei, Li, Wenyi, Wang, Xiaohong, Du, Zhongli, Chen, Jinlong, Liu, Yaou, Li, Wei, Lu, Zhonghua, Wang, Yanli, Xu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198639/
https://www.ncbi.nlm.nih.gov/pubmed/35721475
http://dx.doi.org/10.3389/fcell.2022.902067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198639/
https://www.ncbi.nlm.nih.gov/pubmed/35721475
http://dx.doi.org/10.3389/fcell.2022.902067

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