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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Detalles Bibliográficos
Autores principales: Xiong, Qiuhong, Li, Wenjing, Li, Ping, Zhao, Zhonghua, Wu, Changxin, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732291/
https://www.ncbi.nlm.nih.gov/pubmed/31332960
http://dx.doi.org/10.1002/mgg3.858

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732291/
https://www.ncbi.nlm.nih.gov/pubmed/31332960
http://dx.doi.org/10.1002/mgg3.858

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