CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) in humans is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the CNS white matter. Symptoms are variable and can include personality and behavioural changes. Patients with this disease have...

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Detalles Bibliográficos
Autores principales: Pridans, Clare, Sauter, Kristin A., Baer, Kristin, Kissel, Holger, Hume, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804858/
https://www.ncbi.nlm.nih.gov/pubmed/24145216
http://dx.doi.org/10.1038/srep03013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804858/
https://www.ncbi.nlm.nih.gov/pubmed/24145216
http://dx.doi.org/10.1038/srep03013

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