Article
The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.
Nature genetics - 1 Jul 1995
Brown A, Bernier G, Mathieu M, Rossant J, Kothary R
Abstract excerpt
Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We describe cloning of a candidate dt gene, dystonin, that is predominantly expressed in the dorsal root ganglia and other sites of neurodegeneration in dt mice. Dystonin encodes an N-terminal actin binding domain and a C-terminal portion comprised of the hemidesmosomal protein, bullous pemphigoid antigen 1...
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