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First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia
Authors:A. Magariello  C. Tortorella  A. Patitucci  R. Tortelli  M. Liguori  R. Mazzei  F. L. Conforti  L. Citrigno  C. Ungaro  I. L. Simone  M. Muglia
Affiliation:1. Institute of Neurological Sciences, National Research Council, , Mangone, Cosenza, Italy;2. Department of Neurological and Psychiatric Sciences, Institute of Neurology, University of Bari, , Bari, Italy
Abstract:
Keywords:movement disorders  neurological disorders  nuclear signal localization sequence  SPAST gene  spastic paraplegia
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