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Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl
BACKGROUND: Beta‐propeller protein‐associated neurodegeneration (BPAN, OMIM 300894) is an X‐linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a no...
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| 出版年: | Mol Genet Genomic Med |
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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.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732291/ https://ncbi.nlm.nih.gov/pubmed/31332960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.858 |
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