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Two adult-onset cases of CSF1R gene mutation-related leukoencephalopathy and gain-offunction analysis of the gene mutations 认领 引用
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作者 HUANG Zhengping 《China Medical Abstracts(Internal Medicine)》 2026年第2期126-126,共1页
Objective To investigate the clinical characteristics of 2 cases with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia(ALSP),analyze the genetic features of colony-stimulating factor 1 receptor... Objective To investigate the clinical characteristics of 2 cases with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia(ALSP),analyze the genetic features of colony-stimulating factor 1 receptor(CSFlR)gene mutations in patients,and to perform functional validation.Methods Clinical and imaging data from 2 ALSPpatients diagnosed at the Second Affiliated Hospital of Fujian Medical University between 2020 and 2021 were collected.Whole-exome sequencing was used to identify potential pathogenic mutations.The function of mutated genes was validated through protein function prediction software and in vitro assays. 展开更多
关键词 identify potential pathogen adult onset leukoencephalopathy investigate clinical characteristics clinical imaging data functional validationmethods CSF R gene mutation axonal spheroids gain function analysis
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