Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100.
No abstract available

Publication types

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

MeSH terms

  • Achondroplasia / genetics*
  • Anion Transport Proteins
  • Carrier Proteins / genetics*
  • Cartilage / metabolism*
  • Female
  • Humans
  • Male
  • Membrane Transport Proteins*
  • Point Mutation
  • Proteoglycans / metabolism
  • Sequence Deletion
  • Sulfate Transporters
  • Sulfates / metabolism*

Substances

  • Anion Transport Proteins
  • Carrier Proteins
  • Membrane Transport Proteins
  • Proteoglycans
  • SLC26A2 protein, human
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Sulfates