A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V

Am J Med Genet A. 2013 Aug;161A(8):1980-2. doi: 10.1002/ajmg.a.36025. Epub 2013 Jun 27.
No abstract available

Publication types

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

MeSH terms

  • 5' Untranslated Regions / genetics*
  • Adult
  • Child, Preschool
  • DNA / analysis
  • DNA / genetics
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Osteogenesis Imperfecta / classification
  • Osteogenesis Imperfecta / diagnostic imaging*
  • Osteogenesis Imperfecta / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Radiography
  • Recurrence

Substances

  • 5' Untranslated Regions
  • IFITM5 protein, human
  • Membrane Proteins
  • DNA