Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) represents a family of related sensorimotor neuropathies. We studied a large family from a rural eastern Canadian community, with multiple individuals suffering from a condition clinically most similar to autosomal recessive axonal CMT, or AR-CMT2. Homozygosity mapp...

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Detalhes bibliográficos
Main Authors: Guernsey, Duane L., Jiang, Haiyan, Bedard, Karen, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Rideout, Andrea L., Orr, Andrew, Ludman, Mark, Skidmore, David L., Benstead, Timothy, Samuels, Mark E.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928813/
https://ncbi.nlm.nih.gov/pubmed/20865121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001081
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