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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Enregistré dans:
Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Angural, Arshia, Singh, Inderpal, Mahajan, Ankit, Pandoh, Pranav, Dhar, Manoj K, Kaul, Sanjana, Verma, Vijeshwar, Rai, Ekta, Razdan, Sushil, Kishore Pandita, Kamal, Sharma, Swarkar
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498598/
https://ncbi.nlm.nih.gov/pubmed/28680084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-05388-9
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