Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. [electronic resource]
Producer: 20120516Description: 407-16 p. digitalISSN:- 1531-8249
- Adolescent
- Adult
- Amino Acid Sequence
- Arginine -- genetics
- Exome -- genetics
- Female
- Genes, Dominant
- Genome-Wide Association Study -- methods
- HSP40 Heat-Shock Proteins -- genetics
- Humans
- Male
- Middle Aged
- Molecular Chaperones -- genetics
- Molecular Sequence Data
- Muscular Diseases -- diagnosis
- Muscular Dystrophies, Limb-Girdle -- diagnosis
- Mutation -- genetics
- Nerve Tissue Proteins -- genetics
- Pedigree
- Proline -- genetics
- Protein Structure, Tertiary -- genetics
- Sequence Analysis, DNA -- methods
- Young Adult
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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