Ylikallio, Emil

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