EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Eur J Hum Genet. 2013 Nov;21(11):1325-9. doi: 10.1038/ejhg.2013.83. Epub 2013 May 22.
No abstract available

MeSH terms

  • Connexin 26
  • Connexin 30
  • Connexins / genetics*
  • Deafness / genetics
  • Europe
  • Genetic Loci / genetics*
  • Genetic Testing
  • Humans
  • Molecular Biology*
  • Molecular Diagnostic Techniques*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Phenotype
  • Practice Guidelines as Topic*
  • Sequence Deletion / genetics

Substances

  • Connexin 30
  • Connexins
  • GJB2 protein, human
  • GJB6 protein, human
  • Connexin 26

Supplementary concepts

  • Nonsyndromic Deafness