Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

J Med Genet. 2003 Jan;40(1):65-71. doi: 10.1136/jmg.40.1.65.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution / genetics
  • Anion Transport Proteins
  • Arginine / genetics*
  • Biological Transport / genetics
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Child
  • Chromosome Mapping / methods*
  • Female
  • Genes, Recessive / genetics*
  • Homozygote*
  • Humans
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Mutation / genetics*
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Sulfate Transporters
  • Sulfates / metabolism
  • Tryptophan / genetics*

Substances

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