Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. [electronic resource]
Producer: 20141118Description: 522-7 p. digitalISSN:- 1476-5438
- Adaptor Proteins, Signal Transducing -- genetics
- Adolescent
- Adult
- Axons
- Cell Cycle Proteins -- genetics
- Charcot-Marie-Tooth Disease -- genetics
- Exons
- Female
- Finland
- Genetic Heterogeneity
- Genetic Testing
- Genome-Wide Association Study
- HSP27 Heat-Shock Proteins -- genetics
- Heat-Shock Proteins
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Molecular Chaperones
- Mutation
- Nuclear Proteins -- genetics
- Pedigree
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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