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

Autor: René P. Zahedi, Wolfram Kress, Andreas Roos, Nilane Mohanadas, Hartmut Bauer, Eva Brauers, Stéphanie Thoma, Laxmikanth Kollipara, Joachim Weis, Martin Häusler, Jan Senderek, Alf Beckmann
Jazyk: angličtina
Rok vydání: 2017
Předmět:
0301 basic medicine
Male
Proteomics
Proteome
Caveolin 3
Clinical Biochemistry
Cell
Caveolin‐3
Disease
Bioinformatics
Myoblasts
Caveolin-3
0302 clinical medicine
Tandem Mass Spectrometry
Myocyte
Research Articles
Chromatography
High Pressure Liquid
medicine.diagnostic_test
Cell biology
ErbB Receptors
medicine.anatomical_structure
symbols
Female
Proteome profile of muscle cells
Research Article
Adult
Heterozygote
Adolescent
Biology
Polymorphism
Single Nucleotide
Cell Line
03 medical and health sciences
symbols.namesake
Muscular Diseases
LGMD-1C
medicine
Humans
Clinical significance
Muscle
Skeletal
Muscle biopsy
Proteomic Profiling
Electromyography
DNA
Sequence Analysis
DNA
Golgi apparatus
RCMH
LGMD‐1C
Microscopy
Electron
030104 developmental biology
Microscopy
Fluorescence
030217 neurology & neurosurgery
Zdroj: Proteomics. Clinical Applications
Proteomics / Clinical applications 11(1/2), 1600007 (2017). doi:10.1002/prca.201600007
DOI: 10.18154/rwth-conv-211935
Popis: Proteomics / Clinical applications 11(1/2), 1600007 (2017). doi:10.1002/prca.201600007
Published by Wiley VCH, Weinheim
Databáze: OpenAIRE
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