A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia

J Genet. 2015 Mar;94(1):115-9. doi: 10.1007/s12041-015-0474-4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • China
  • DNA Mutational Analysis
  • Ectodermal Dysplasia 1, Anhidrotic / genetics*
  • Ectodysplasins / genetics*
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Protein Structure, Tertiary
  • Young Adult

Substances

  • EDA protein, human
  • Ectodysplasins