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Dokumenttyp:
journal article 
Autor(en):
Hartig, MB; Hörtnagel, K; Garavaglia, B; Zorzi, G; Kmiec, T; Klopstock, T; Rostasy, K; Svetel, M; Kostic, VS; Schuelke, M; Botz, E; Weindl, A; Novakovic, I; Nardocci, N; Prokisch, H; Meitinger, T 
Titel:
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. 
Abstract:
OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2). METHODS: We completed a mutation screen in 72 patients with the diagnosis NBIA based on clinical findings and radiological imaging. The entire coding region of the PANK2 gene (20p12.3) was investigat...    »
 
Zeitschriftentitel:
Ann Neurol 
Jahr:
2006 
Band / Volume:
59 
Heft / Issue:
Seitenangaben Beitrag:
248-56 
Sprache:
eng 
Print-ISSN:
0364-5134 
TUM Einrichtung:
r Humangenetik