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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Publicat a:Brain
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2016
Matèries:
Reports
Accés en línia: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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