A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

J Med Genet. 2001 Jun;38(6):409-11. doi: 10.1136/jmg.38.6.409.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Amino Acid Sequence
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Child
  • Female
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Membrane Transport Proteins*
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Protein Structure, Secondary
  • Transcription Factors
  • X Chromosome*

Substances

  • Carrier Proteins
  • Membrane Transport Proteins
  • TRAPPC2 protein, human
  • Transcription Factors