A recurrent pathogenic splicing mutation of <i>Colony-stimulating factor 1 receptor</i> is responsible for a Chinese family with diffuse leukoencephalopathy-Reference-Cited by-同舟云学术

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A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy

Published:2023-12-06 Issue: Volume: Page:
ISSN:1460-2725
Container-title:QJM: An International Journal of Medicine
language:en
Short-container-title:

Author:

Zhu L¹,Zhang W¹,Hu C -F²,Fan L -L²^ORCID,Liu Y -H³

Affiliation:

1. Department of Obstetrics and Gynecology, Ordos Central Hospital , Ordos 017000, China

2. Department of Cell Biology, School of Life Sciences, Central South University , Changsha 410000, China

3. Department of Neurology, Affiliated Hospital of Yangzhou University , Yangzhou, China

Funder

Fundamental Research Funds for Central Universities of Central South University

Inner Mongolia Autonomous Region

National Natural Science Foundation of Hunan province

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcad274/54650962/hcad274.pdf

Reference6 articles.

2. CSF-1 receptor signaling in myeloid cells;Stanley;Cold Spring Harb Perspect Biol,2014

3. A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids;Du;Neurol Sci,2022

4. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids;Rademakers;Nat Genet,2011

5. Late-onset hereditary spastic paraplegia associated with a genetic variant in interferon induced with helicase c domain 1 (IFIH1) gene;Zhang;QJM,2023

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