A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'

J Hum Genet. 2012 Sep;57(9):555. doi: 10.1038/jhg.2012.88. Epub 2012 Jul 12.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Bulbar Palsy, Progressive / genetics*
  • Female
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Membrane Transport Proteins / genetics*
  • Mutation*

Substances

  • Membrane Transport Proteins
  • SLC52A3 protein, human

Supplementary concepts

  • Brown-Vialetto-Van Laere syndrome