A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that typically presents with early-onset cognitive decline or personality change. The disease is associated with heterozygous mutations in the colony stimulating factor-1 receptor (CSF1R) gene....

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Bibliographic Details
Published in:Front Genet
Main Authors: Yang, Xiaodong, Huang, Pei, Tan, Yuyan, Xiao, Qin
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2019
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6541038/
https://ncbi.nlm.nih.gov/pubmed/31191609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00491
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