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Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
Neurology. 2002 Apr 23;58(8):1273-6. doi: 10.1212/wnl.58.8.1273.
Neurology. 2002.
PMID: 11971098
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M.
Bomont P, et al.
Nat Genet. 2000 Nov;26(3):370-4. doi: 10.1038/81701.
Nat Genet. 2000.
PMID: 11062483
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