Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

J Med Genet. 2004 Apr;41(4):e40. doi: 10.1136/jmg.2003.010975.
No abstract available

Publication types

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

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Genetic Predisposition to Disease
  • Haplotypes
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Linkage Disequilibrium
  • Mutation
  • Polymorphism, Single Nucleotide*
  • T-Box Domain Proteins / genetics*

Substances

  • T-Box Domain Proteins
  • TBX1 protein, human