集落刺激因子1受体（CSF1R）基因的一种新型突变导致伴有轴突球状体的遗传性弥漫性白质脑病。 - Suppr

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超能文献

A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids.

作者信息

Du Qin, Chen Hongxi, Shi Ziyan, Zhang Ying, Wang Jiancheng, Zhou Hongyu

机构信息

Department of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu, 610041, China.

出版信息

Neurol Sci. 2019 Jun;40(6):1287-1290. doi: 10.1007/s10072-018-3693-7. Epub 2019 Jan 7.

DOI:10.1007/s10072-018-3693-7

PMID:30617447

Abstract

摘要

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本文引用的文献

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.伴有轴突球体的遗传性弥漫性白质脑病（HDLS）：分子遗传学进展

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J Neurol Neurosurg Psychiatry. 2016 May;87(5):512-9. doi: 10.1136/jnnp-2015-310788. Epub 2015 May 2.

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Brain Pathol. 2009 Jan;19(1):39-47. doi: 10.1111/j.1750-3639.2008.00163.x. Epub 2008 Apr 15.

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