Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

Primary Familial Brain Calcification (PFBC), a neurodegenerative disease characterized by progressive pericapillary calcifications, has recently been linked to heterozygous mutations in PDGFB and PDGFRB genes. Here, we functionally analyzed several of these mutations in vitro. All six analyzed PDGFB...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Vanlandewijck, Michael, Lebouvier, Thibaud, Andaloussi Mäe, Maarja, Nahar, Khayrun, Hornemann, Simone, Kenkel, David, Cunha, Sara I., Lennartsson, Johan, Boss, Andreas, Heldin, Carl-Henrik, Keller, Annika, Betsholtz, Christer
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4658112/
https://ncbi.nlm.nih.gov/pubmed/26599395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0143407
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