Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome

J Med Genet. 2003 Mar;40(3):e29. doi: 10.1136/jmg.40.3.e29.
No abstract available

Publication types

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

MeSH terms

  • 3T3 Cells
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Active Transport, Cell Nucleus / genetics
  • Animals
  • Atrial Natriuretic Factor / genetics
  • Base Sequence
  • Cell Line
  • Cell Nucleus / metabolism
  • Codon, Nonsense
  • DNA / chemistry
  • DNA / genetics
  • DNA / metabolism
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Heart Defects, Congenital / pathology*
  • Humans
  • Limb Deformities, Congenital / pathology*
  • Luciferases / genetics
  • Luciferases / metabolism
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Promoter Regions, Genetic
  • Protein Binding / genetics
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Sequence Deletion
  • Syndrome
  • T-Box Domain Proteins / genetics*
  • T-Box Domain Proteins / metabolism

Substances

  • Codon, Nonsense
  • Recombinant Fusion Proteins
  • T-Box Domain Proteins
  • T-box transcription factor 5
  • Atrial Natriuretic Factor
  • DNA
  • Luciferases

Associated data

  • OMIM/142900