A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India
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Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-05388-9.pdf
Reference32 articles.
1. Zhou, B. et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28, 345–349, doi: 10.1038/ng572 (2001).
2. Hayflick, S. J. et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 348, 33–40, doi: 10.1056/NEJMoa020817 (2003).
3. Rump, P. et al. A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. Neurogenetics 6, 201–207, doi: 10.1007/s10048-005-0018-9 (2005).
4. Gregory, A. & Hayflick, S. in GeneReviews(R) (eds R. A. Pagon et al.) (1993).
5. Lee, C. H. et al. Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review. ScientificWorldJournal 2013, 860539, doi: 10.1155/2013/860539 (2013).
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