Guernsey, Duane L
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. [electronic resource]
- PLoS genetics Aug 2010
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1553-7404
10.1371/journal.pgen.1001081 doi
Base Sequence
Canada
Charcot-Marie-Tooth Disease--enzymology
Female
Humans
Male
Molecular Sequence Data
Mutagenesis, Insertional
Mutation
Pedigree
Polymorphism, Single Nucleotide
RNA Splice Sites
RNA Splicing
Ubiquitin-Protein Ligases--genetics