Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nat Genet. 2000 Oct;26(2):142-4. doi: 10.1038/79851.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Arginine
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • Connexin 30
  • Connexins / genetics*
  • Ectodermal Dysplasia / genetics*
  • Female
  • Glycine
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Sequence Alignment
  • Sequence Homology, Amino Acid

Substances

  • Connexin 30
  • Connexins
  • GJB6 protein, human
  • Gjb6 protein, mouse
  • Arginine
  • Glycine