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Article

Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.

Annals of clinical and translational neurology - 1 Nov 2021

Tsai Pei-Chien, Fuh Jong-Ling, Yang Chih-Chao, Chang Anna, Lien Li-Ming, Wang Pei-Ning, Lai Kuan-Lin, Tsai Yu-Shuen, Lee Yi-Chung, Liao Yi-Chu

Abstract excerpt

OBJECTIVE: Mutations in the colony-stimulating factor 1 receptor gene (CSF1R) were identified as a cause of adult-onset inherited leukoencephalopathy. The present study aims at investigating the frequency, clinical characteristics, and functional effects of CSF1R mutations in Taiwanese patients with adult-onset leukoencephalopathy. METHODS: Mutational analysis of CSF1R was performed in 149 unrelated individuals...

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Identifiers

PMID: 34652888
DOI: 10.1002/acn3.51467
PMCID: PMC8607455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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