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Proteomic analysis in giant axonal neuropathy: New insights into disease mechanisms

6 Jan 2012

Abstract excerpt

INTRODUCTION: Giant axonal neuropathy (GAN) is a progressive hereditary disease that affects the peripheral and central nervous systems. It is characterized morphologically by aggregates of intermediate filaments in different tissues. Mutations have been reported in the gene that codes for gigaxonin. Nevertheless, the underlying molecular mechanism remains obscure. METHODS: Cell lines from 4 GAN patients and 4...

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PMID: 22806374
DOI: 10.1002/mus.23306

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