Identification of a de novo splicing mutation in the CSF1R gene in a Chinese patient with hereditary diffuse leukoencephalopathy with spheroids

OBJECTIVE: To report a de novo splicing mutation in the CSF1R gene in a patient with hereditary diffuse leukoencephalopathy with spheroids (HDLS). METHODS: A 42-year-old Chinese woman with constant weakness on her left lower extremity was recruited in the current study. Detail medical history and cl...

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Detalles Bibliográficos
Autores principales: Wu, Xinwei, Sun, Congcong, Wang, Xingbang, Liu, Ying, Wu, Wei, Jia, Guoyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018673/
https://www.ncbi.nlm.nih.gov/pubmed/34791569
http://dx.doi.org/10.1007/s10072-021-05755-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018673/
https://www.ncbi.nlm.nih.gov/pubmed/34791569
http://dx.doi.org/10.1007/s10072-021-05755-5

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