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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Proteomics Clin Appl
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Research Articles
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars