A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review

BACKGROUND: Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII‐complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several individuals...

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Detalles Bibliográficos
Autores principales: Li, Chang, Wen, Ya, Zhao, Mengqiu, Wang, Yaye, Li, Ping, Wang, Liang, Wang, Shan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422061/
https://www.ncbi.nlm.nih.gov/pubmed/37272767
http://dx.doi.org/10.1002/mgg3.2222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422061/
https://www.ncbi.nlm.nih.gov/pubmed/37272767
http://dx.doi.org/10.1002/mgg3.2222

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