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

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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Bibliographic Details
Main Authors: Michael Vanlandewijck, Thibaud Lebouvier, Maarja Andaloussi Mäe, Khayrun Nahar, Simone Hornemann, David Kenkel, Sara I Cunha, Johan Lennartsson, Andreas Boss, Carl-Henrik Heldin, Annika Keller, Christer Betsholtz
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0143407

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https://doi.org/10.1371/journal.pone.0143407

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