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Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: Exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred

Dopa-responsive dystonia is a clinical variant of idiopathic torsion dystonia that is distinguished from other forms of dystonia by the frequent cooccurrence of parkinsonism, diurnal fluctuation of symptoms, and its dramatic therapeutic response to L-dopa. Linkage of a gene causing classic dystonia...

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Detalhes bibliográficos
Main Authors: Kwiatkowski, David J., Nygaard, Torbjoern G., Schuback, Deborah E., Perman, Scott, Trugman, Joel M., Bressman, Susan B., Burke, Robert E., Brin, Mitchell F., Ozelius, Laurie, Breakefield, Xandra O., Fahn, Stanley, Kramer, Patricia L.
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682762/
https://ncbi.nlm.nih.gov/pubmed/1985454
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