Genetic screening and functional characterization of PDGFRB mutations associated with Basal Ganglia Calcification of Unknown Etiology

Three causal genes for Idiopathic Basal Ganglia Calcification (IBGC) have been identified. Most recently, mutations in PDGFRB, encoding a member of the platelet-derived growth factor receptor family type β, and PDGFB, encoding PDGF-B, the specific ligand of PDGFRβ, were found implicating the PDGF-B/...

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Main Authors: Sanchez-Contreras, Monica, Baker, Matthew C., Finch, NiCole A., Nicholson, Alexandra, Wojtas, Aleksandra, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Rademakers, Rosa
Format: Artigo
Jezik:Inglês
Izdano: 2014
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4107018/
https://ncbi.nlm.nih.gov/pubmed/24796542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22582
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