A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia

J Med Genet. 2004 Jun;41(6):e83. doi: 10.1136/jmg.2003.016402.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Blotting, Western
  • Cell Line, Tumor
  • Cell Nucleus / metabolism*
  • Child
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / metabolism
  • Humans
  • Male
  • Microscopy, Fluorescence
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense*
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Pedigree
  • Point Mutation
  • Protein Transport
  • Sequence Homology, Amino Acid
  • Short Stature Homeobox Protein
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • Transcription Factors
  • DNA