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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
Authors:Saifi Gulam Mustafa  Szigeti Kinga  Wiszniewski Wojciech  Shy Michael E  Krajewski Karen  Hausmanowa-Petrusewicz Irena  Kochanski Andrzej  Reeser Suzanne  Mancias Pedro  Butler Ian  Lupski James R
Affiliation:Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Abstract:
Keywords:CMT  CMT1C  LITAF  SIMPLE  neuropathy  E3 ligase  ubiquitination  multivesicular protein sorting
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