The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Authors: Pascale Bomont, L Cavalier, F Blondeau, Christiane Ben Hamida, Samir Belal, Mériem Tazir, Ercan Demir, Haluk Topaloğlu, Rudolf Korinthenberg, Beyhan Tüysüz, P. Landrieu, Fayçal Hentati, Michel Koenig - Nature Genetics 2000 cited by 413