A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia

Am J Med Genet A. 2007 Feb 15;143(4):390-4. doi: 10.1002/ajmg.a.31567.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution*
  • Animals
  • Anodontia / genetics*
  • Base Sequence
  • Ectodysplasins / chemistry
  • Ectodysplasins / genetics*
  • Genes, X-Linked
  • Genetic Diseases, X-Linked / genetics*
  • Glutamic Acid / genetics
  • Glutamic Acid / metabolism
  • Glycine / genetics
  • Glycine / metabolism
  • Humans
  • Incisor / abnormalities*
  • Incisor / diagnostic imaging
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Radiography
  • Sequence Alignment

Substances

  • Ectodysplasins
  • Glutamic Acid
  • Glycine