Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including juvenile-on...

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Détails bibliographiques
Auteurs principaux: Quadri, Marialuisa, Federico, Antonio, Zhao, Tianna, Breedveld, Guido J., Battisti, Carla, Delnooz, Cathérine, Severijnen, Lies-Anne, Di Toro Mammarella, Lara, Mignarri, Andrea, Monti, Lucia, Sanna, Antioco, Lu, Peng, Punzo, Francesca, Cossu, Giovanni, Willemsen, Rob, Rasi, Fabrizio, Oostra, Ben A., van de Warrenburg, Bart P., Bonifati, Vincenzo
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309204/
https://ncbi.nlm.nih.gov/pubmed/22341971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.01.017
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