How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy. [electronic resource]
Producer: 20090528Description: E490-9 p. digitalISSN:- 1098-1004
- Base Sequence
- Blotting, Western
- DNA Mutational Analysis
- Desmin -- chemistry
- Family Health
- Female
- Gene Expression
- Humans
- Male
- Microscopy, Electron
- Muscle, Skeletal -- metabolism
- Muscular Diseases -- genetics
- Mutation
- Pedigree
- Reverse Transcriptase Polymerase Chain Reaction
- Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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