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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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| I publikationen: | Front Aging Neurosci |
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| Huvudupphovsmän: | , , , , , , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Frontiers Media S.A.
2017
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| Ämnen: | |
| 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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