Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. [electronic resource]
- European journal of human genetics : EJHG Apr 2014
- 522-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2013.190 doi
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