The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test
BTB-KELCH 蛋白 Gigaxonin 的不稳定性导致巨轴突神经病,并构成一种新的渗透性和特异性诊断测试
期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/2051-5960-2-47
Alexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, Nancy L Kuntz, Cecile Halbert, Brigitte Chabrol, Henry Houlden, Tanya Stojkovic, Brenda A Schulman, Bernd Rautenstrauss, Pascale Bomont