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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Xiong, Qiuhong, Li, Wenjing, Li, Ping, Zhao, Zhonghua, Wu, Changxin, Xiao, Han
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang: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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