The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility. [electronic resource]
Producer: 20170410Description: 14939-53 p. digitalISSN:- 1083-351X
- Cardiomyopathies -- etiology
- Cataract -- etiology
- Female
- Homozygote
- Humans
- Induced Pluripotent Stem Cells -- metabolism
- Male
- Models, Biological
- Muscle Fibers, Skeletal -- metabolism
- Muscular Diseases -- etiology
- Mutant Proteins -- chemistry
- Myocytes, Cardiac -- metabolism
- Pedigree
- Protein Aggregation, Pathological -- genetics
- RNA, Messenger -- genetics
- Recombinant Proteins -- chemistry
- Sequence Deletion
- Solubility
- alpha-Crystallin B Chain -- chemistry
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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