Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders with progressive extrapyramidal signs and neurological deterioration, characterized by iron accumulation in the basal ganglia. Exome sequencing revealed the presence of reces...

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Main Authors: Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom, Tim M., Invernizzi, Federica, Garavaglia, Barbara, Gregory, Allison, Sanford, Lynn, Hamada, Jeffrey, Bettencourt, Conceição, Houlden, Henry, Chiapparini, Luisa, Zorzi, Giovanna, Kurian, Manju A., Nardocci, Nardo, Prokisch, Holger, Hayflick, Susan, Gout, Ivan, Tiranti, Valeria
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882905/
https://ncbi.nlm.nih.gov/pubmed/24360804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.11.008
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