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A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation...

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Detalles Bibliográficos
Autores principales:	Angural, Arshia, Singh, Inderpal, Mahajan, Ankit, Pandoh, Pranav, Dhar, Manoj K, Kaul, Sanjana, Verma, Vijeshwar, Rai, Ekta, Razdan, Sushil, Kishore Pandita, Kamal, Sharma, Swarkar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498598/ https://www.ncbi.nlm.nih.gov/pubmed/28680084 http://dx.doi.org/10.1038/s41598-017-05388-9

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