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Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling

Platelet-derived growth factors (PDGF) bind to two related receptor tyrosine kinases, which are encoded by the PDGFRA and PDGFRB genes. Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherit...

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Detalles Bibliográficos
Autores principales:	Arts, Florence A, Velghe, Amélie I, Stevens, Monique, Renauld, Jean-Christophe, Essaghir, Ahmed, Demoulin, Jean-Baptiste
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2015
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288366/ https://www.ncbi.nlm.nih.gov/pubmed/25292412 http://dx.doi.org/10.1111/jcmm.12443

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