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Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports

BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate...

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Detalles Bibliográficos
Autores principales: Dastsooz, Hassan, Nemati, Hamid, Fard, Mohammad Ali Farazi, Fardaei, Majid, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562981/
https://www.ncbi.nlm.nih.gov/pubmed/28821231
http://dx.doi.org/10.1186/s12881-017-0439-y