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Article

Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.

CNS neuroscience & therapeutics - 1 Jun 2024

Han Yilai, Han Jinming, Li Zhen, Chen Siqi, Liu Ju, Zhou Ruxing, Zhao Shufang, Li Dawei, Liu Zheng, Zhao Yinan, Hao Junwei, Chai Guoliang

Abstract excerpt

AIMS: Colony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rapidly progressing neurodegenerative disease caused by CSF1R gene mutations. This study aimed to identify and investigate the effect of a novel intronic mutation (c.1754-3C>G) of CSF1R on splicing. METHODS: A novel intronic mutation was identified using whole-exome sequencing. To investigate the impact of this mutation, we...

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Identifiers

PMID: 38922778
DOI: 10.1111/cns.14815
PMCID: PMC11194178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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