Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Nat Genet. 1999 Sep;23(1):16-8. doi: 10.1038/12612.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 13
  • Connexin 30
  • Connexins / chemistry
  • Connexins / genetics*
  • Deafness / genetics*
  • Genes, Dominant*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Sequence Homology, Amino Acid
  • Tissue Distribution
  • Xenopus / metabolism
  • Xenopus Proteins*

Substances

  • Connexin 30
  • Connexins
  • GJB6 protein, human
  • Gjb6 protein, mouse
  • Xenopus Proteins
  • gjb1 protein, Xenopus