MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

J Med Genet. 2005 Mar;42(3):271-5. doi: 10.1136/jmg.2004.024505.
No abstract available

Publication types

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

MeSH terms

  • Amelogenesis Imperfecta / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Genes, Recessive
  • Haplotypes
  • Humans
  • Matrix Metalloproteinase 20
  • Matrix Metalloproteinases / chemistry
  • Matrix Metalloproteinases / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Phenotype

Substances

  • MMP20 protein, human
  • Matrix Metalloproteinase 20
  • Matrix Metalloproteinases