Condition: GIANT AXONAL NEUROPATHY 1


rs1310137430 in GAN gene and GIANT AXONAL NEUROPATHY 1 PMID 12655563 2003 Identification of seven novel mutations in the GAN gene.

PMID 11062483 2000 The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

PMID 16303566 2005 Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.

PMID 11971098 2002 Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

PMID 17578852 2007 New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

PMID 17587580 2007 Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

PMID 14718689 2004 Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

PMID 23890932 2014 The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.

PMID 23248352 2013 We report a novel compound heterozygous mutation with the c. 805C>T in exon 4(Arg545His missense mutation) and the c. 1634G>A in exon 11(Arg269Trp missense mutation) in an 11-year-old Chinese giant axonal neuropathy case.