A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans

Ann N Y Acad Sci. 1996 Jun 8:785:195-201. doi: 10.1111/j.1749-6632.1996.tb56259.x.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Anion Transport Proteins
  • Carrier Proteins / genetics*
  • Humans
  • Membrane Transport Proteins
  • Mutation*
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Point Mutation
  • Protein Processing, Post-Translational
  • Proteoglycans / metabolism*
  • Sequence Deletion
  • Sulfate Transporters
  • Sulfates / metabolism*

Substances

  • Anion Transport Proteins
  • Carrier Proteins
  • Membrane Transport Proteins
  • Proteoglycans
  • SLC26A2 protein, human
  • Sulfate Transporters
  • Sulfates