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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Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2016
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On-line přístup: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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