Article
Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
Human molecular genetics - 1 Sept 1998
Yuan Z R, Kohsaka T, Ikegaya T, Suzuki T, Okano S, Abe J, Kobayashi N, Yamada M
Abstract excerpt
Alagille syndrome (AGS) is an autosomal dominant disease characterized by five major abnormalities in the liver, heart, face, vertebrae and eye. The responsible gene has been recently identified as the human Jagged 1 (JAG1) gene, which encodes a ligand for the Notch receptor. We analyzed the JAG1...
Topics
- Alagille Syndrome
- Base Sequence
- Calcium-Binding Proteins
- Codon, Nonsense
- DNA
- DNA Primers
- Female
- Frameshift Mutation
- Gene Deletion
- Genes, Dominant
- Humans
- Intercellular Signaling Peptides and Proteins
- Jagged-1 Protein
- Male
- Membrane Proteins
- Mutation
- Pedigree
- Point Mutation