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Panthotenate Kinase‐Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients
The early‐onset classic form of panthotenate kinase‐associated neurodegeneration (PKAN) is a rare genetic disorder of brain iron deposition associated with mutations in the pantothenate kinase 2 gene. Genetic testing was performed in 17 patients with early‐onset classic PKAN and 2 atypical patients...
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| 出版年: | Mov Disord Clin Pract |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6353435/ https://ncbi.nlm.nih.gov/pubmed/30713952 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12341 |
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