TY - GEN AU - Guernsey,Duane L AU - Jiang,Haiyan AU - Bedard,Karen AU - Evans,Susan C AU - Ferguson,Meghan AU - Matsuoka,Makoto AU - Macgillivray,Christine AU - Nightingale,Mathew AU - Perry,Scott AU - Rideout,Andrea L AU - Orr,Andrew AU - Ludman,Mark AU - Skidmore,David L AU - Benstead,Timothy AU - Samuels,Mark E TI - Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease SN - 1553-7404 PY - 2010///1228 KW - Base Sequence KW - Canada KW - Charcot-Marie-Tooth Disease KW - enzymology KW - Female KW - Humans KW - Male KW - Molecular Sequence Data KW - Mutagenesis, Insertional KW - Mutation KW - Pedigree KW - Polymorphism, Single Nucleotide KW - RNA Splice Sites KW - RNA Splicing KW - Ubiquitin-Protein Ligases KW - genetics N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1371/journal.pgen.1001081 ER -