Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia Academic Article uri icon

Overview

MeSH Major

  • Genetic Predisposition to Disease
  • RNA, Small Nuclear
  • RNA, Untranslated
  • Spinocerebellar Degenerations

abstract

  • Interference with particular spliceosome components, including small nuclear RNAs, cause reproducible uniquely distributed phenotypic and transcript-specific effects, making this an important category of disease-associated mutation. Our approach to differential expression analysis of minor intron-containing genes is applicable to other diseases involving altered transcriptome processing. ANN NEUROL 2017;81:68-78.

publication date

  • January 2017

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1002/ana.24826

PubMed ID

  • 27863452

Additional Document Info

start page

  • 68

end page

  • 78

volume

  • 81

number

  • 1