The Caveolin‐3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis

1. PURPOSE: In the era of next‐generation sequencing, we are increasingly confronted with sequence variants of unknown significance. This phenomenon is also known for variations in Caveolin‐3 and can complicate the molecular diagnosis of the disease. Here, we aimed to study the ambiguous character o...

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Detalhes bibliográficos
Publicado no:Proteomics Clin Appl
Main Authors: Brauers, Eva, Roos, Andreas, Kollipara, Laxmikanth, Zahedi, René P., Beckmann, Alf, Mohanadas, Nilane, Bauer, Hartmut, Häusler, Martin, Thoma, Stéphanie, Kress, Wolfram, Senderek, Jan, Weis, Joachim
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5248598/
https://ncbi.nlm.nih.gov/pubmed/27739254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/prca.201600007
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