Article
Congenital heart disease caused by mutations in the transcription factor NKX2-5.
Science (New York, N.Y.) - 3 Jul 1998
Schott J J, Benson D W, Basson C T, Pease W, Silberbach G M, Moak J P, Maron B J, Seidman C E, Seidman J G
Abstract excerpt
Mutations in the gene encoding the homeobox transcription factor NKX2-5 were found to cause nonsyndromic, human congenital heart disease. A dominant disease locus associated with cardiac malformations and atrioventricular conduction abnormalities was mapped to chromosome 5q35, where NKX2-5, a Dro...
Topics
- Amino Acid Sequence
- Animals
- Atrioventricular Node
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Codon
- Female
- Genes, Dominant
- Genetic Linkage
- Heart Block
- Heart Septal Defects, Atrial
- Homeobox Protein Nkx-2.5
- Homeodomain Proteins
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation