Title : Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Pub. Date : 2011 Dec 25

PMID : 22197934






1 Functional Relationships(s)
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1 In vitro, CSF-1 stimulation resulted in rapid autophosphorylation of selected tyrosine residues in the kinase domain of wild-type but not mutant CSF1R, suggesting that HDLS may result from partial loss of CSF1R function. Tyrosine colony stimulating factor 1 Homo sapiens