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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 
Abstract:
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 recessive missense mutations in COASY, encoding coenzyme A (CoA) synthase in one NBIA-affected subject. A second unrelated individual carrying mutations in COASY was identified by Sanger sequence analysis....    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2014 
Band / Volume:
94 
Heft / Issue:
Seitenangaben Beitrag:
11-22 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Institut für Humangenetik