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/...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Sanchez-Contreras, Monica, Baker, Matthew C., Finch, NiCole A., Nicholson, Alexandra, Wojtas, Aleksandra, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Rademakers, Rosa
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi