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Academic Journal

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Subjects: CMT2; GAN; Diagnosis

  • Source: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://inserm.hal.science/inserm-00989733 ; Acta Neuropathologica Communications, 2014, 2 (1), pp.47. ⟨10.1186/2051-5960-2-47⟩.

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