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• W2032373764 abstract "Dysferlinopathies are autosomal recessive muscular dystrophies caused by DYSF mutations, which lead to a reduced amount or a complete lack of dysferlin. One step in dysferlinopathies diagnosis consists in Western blot analysis of proteins extracted from muscle biopsy, or blood monocytes. We have taken advantage of dysferlin expression in monocytes to develop a whole blood flow cytometry (WBFC), using antibodies directed against dysferlin. Six patients were submitted to WBFC analysis and immunofluorescence analysis on monocytes. Results obtained are correlated to Western blot from monocytes and muscle biopsies. The possible usefulness of this flow cytometry analysis in routine diagnosis is presented." @default.
• W2032373764 created "2016-06-24" @default.
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• W2032373764 date "2010-01-01" @default.
• W2032373764 modified "2023-10-06" @default.
• W2032373764 title "Immunolabelling and flow cytometry as new tools to explore dysferlinopathies" @default.
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• W2032373764 doi "https://doi.org/10.1016/j.nmd.2009.08.004" @default.
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