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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5248598/
https://www.ncbi.nlm.nih.gov/pubmed/27739254
http://dx.doi.org/10.1002/prca.201600007

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