c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

OBJECTIVE: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. METHODS: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencin...

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Detalles Bibliográficos
Autores principales: Shalash, Ali S., Rösler, Thomas W., Müller, Stefanie H., Salama, Mohamed, Deuschl, Günther, Müller, Ulrich, Opladen, Thomas, Petersen, Britt-Sabina, Franke, Andre, Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682855/
https://www.ncbi.nlm.nih.gov/pubmed/29147684
http://dx.doi.org/10.1212/NXG.0000000000000197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682855/
https://www.ncbi.nlm.nih.gov/pubmed/29147684
http://dx.doi.org/10.1212/NXG.0000000000000197

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