A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration
Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment,...
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フォーマット: | 図書 |
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MDPI AG,
2019-03-01T00:00:00Z.
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請求記号: |
A1234.567 |
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所蔵 1 | 利用可 |