test_moissonnage_selune
type: Agent

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
type: Dataset
contact point: Organization
  fn: CCSD
keyword: e3-ligase
keyword: infoeu-reposemanticsarticle
keyword: gan
keyword: diagnosis
keyword: cmt2
keyword: sdvneulife-sciences-q-bioneurons-and-cognition-q-bionc
keyword: instability
keyword: modelization
keyword: journal-articles
keyword: sdvgenlife-sciences-q-biogenetics
keyword: gigaxonin
landing page: 2051-5960
description: International audience
issued: 2026-05-05T11:33:23.881802
language: en
modified: 2026-05-05T11:33:23.881809

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
type: Distribution
access URL: https://inserm.hal.science/inserm-00989733
format: HTML
issued: 2026-05-05T11:33:23.890080
modified: 2026-05-05T11:33:23.868289