Harms, Matthew B

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. [electronic resource] - Annals of neurology Mar 2012 - 407-16 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1531-8249

10.1002/ana.22683 doi


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