Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calc...
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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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 mutations led to complete loss of PDGF-B function...
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Full title
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification
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TN_cdi_plos_journals_1735663924
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1735663924
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0143407
