CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. We identified a novel, heterozygous missense mutation in CSF1R [c.1990G > A p.(E664K)] by exome sequencing in five members of a f...

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Publicado no:Brain
Main Authors: Eichler, Florian S., Li, Jiankang, Guo, Yiran, Caruso, Paul A., Bjonnes, Andrew C., Pan, Jessica, Booker, Jessica K., Lane, Jacqueline M., Tare, Archana, Vlasac, Irma, Hakonarson, Hakon, Gusella, James F., Zhang, Jianguo, Keating, Brendan J., Saxena, Richa
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4892751/
https://ncbi.nlm.nih.gov/pubmed/27190017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww066
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