title: Genotype-phenotype analysis in patients with giant axonal neuropathy.
authors.forename: Gregor
authors.initials: G
authors.lastname: Kuhlenbäumer
mesh_terms: D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human