Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

J Med Genet. 2001 Dec;38(12):E45. doi: 10.1136/jmg.38.12.e45.
No abstract available

Publication types

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

MeSH terms

  • 3' Untranslated Regions / genetics
  • Alternative Splicing / genetics
  • Animals
  • Cardiovascular Abnormalities / genetics*
  • Chromosomes, Human, Pair 22 / genetics
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • DiGeorge Syndrome / genetics*
  • Exons / genetics
  • Female
  • Genetic Testing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Introns / genetics
  • Mice
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion / genetics
  • T-Box Domain Proteins / genetics*

Substances

  • 3' Untranslated Regions
  • T-Box Domain Proteins
  • TBX1 protein, human
  • Tbx1 protein, mouse