Načítá se...
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...
Uloženo v:
| Vydáno v: | Mol Genet Genomic Med |
|---|---|
| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2019
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|