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Article

Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020

Roos Andreas, Hathazi Denisa, Schara Ulrike

Abstract excerpt

Immunohistochemistry- and/or immunofluorescence-based analysis of muscular proteins represents a standard procedure in the diagnostic management of patients suffering from neuromuscular diseases such as "Caveolinopathies" which are caused by mutations in the CAV3 gene encoding for caveolin-3. Human caveolin-3 is a 151 amino acid sized transmembrane protein localized within caveolae, predominantly expressed in...

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PMID: 32548831
DOI: 10.1007/978-1-0716-0732-9_18

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