Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (...

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Bibliografiska uppgifter
I publikationen:Front Aging Neurosci
Huvudupphovsmän: Shen, Yan, Liu, Xiaoming, Long, Xi, Han, Chao, Wan, Fang, Fan, Wenliang, Guo, Xingfang, Ma, Kai, Guo, Shiyi, Wang, Luxi, Xia, Yun, Liu, Ling, Huang, Jinsha, Lin, Zhicheng, Xiong, Nian, Wang, Tao
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2017
Ämnen:
Neuroscience
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388735/
https://ncbi.nlm.nih.gov/pubmed/28446873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnagi.2017.00095
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