A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5

Chin Med J (Engl). 2016 Oct 20;129(20):2516-2517. doi: 10.4103/0366-6999.191834.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Mutation, Missense / genetics*
  • Spectrin / genetics*
  • Spinocerebellar Ataxias / etiology*
  • Spinocerebellar Ataxias / genetics*
  • Young Adult

Substances

  • Spectrin