Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
نویسندگان
چکیده
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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 mutations led to complete loss of PDGF-B function either through abolished protein synthesis or ...
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