A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration

Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mut...

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Detalles Bibliográficos
Autores principales: Ghafouri-Fard, Soudeh, Yassaee, Vahid Reza, Rezayi, Alireza, Hashemi-Gorji, Feyzollah, Alipour, Nasrin, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353987/
https://www.ncbi.nlm.nih.gov/pubmed/28357202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353987/
https://www.ncbi.nlm.nih.gov/pubmed/28357202

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