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

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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Hlavní autoři: Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark D. Ludman, David Skidmore, Timothy Benstead, Mark E. Samuels
Médium: Artigo
Jazyk:angličtina
Vydáno: 2010
On-line přístup:https://doi.org/10.1371/journal.pgen.1001081
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001081&type=printable
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https://doi.org/10.1371/journal.pgen.1001081
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001081&type=printable

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