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New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN
OBJECTIVE: To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype. METHODS: Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identif...
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| 主要な著者: | , , , , , , , , , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Lippincott Williams & Wilkins
2013
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3589182/ https://ncbi.nlm.nih.gov/pubmed/23269600 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827e07be |
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