Article
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Nature genetics - 1 Jul 1997
Oda T, Elkahloun A G, Pike B L, Okajima K, Krantz I D, Genin A, Piccoli D A, Meltzer P S, Spinner N B, Collins F S, Chandrasekharappa S C
Abstract excerpt
Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart, eye and vertebrae, as well as a characteristic facial appearance. Identification of rare AGS patients with cytogenetic deletions has allowed mapping of the gene of 20p12...
Topics
- Alagille Syndrome
- Calcium-Binding Proteins
- Cell Line
- Chromosome Mapping
- Chromosomes, Human, Pair 20
- Cloning, Molecular
- DNA Mutational Analysis
- DNA Primers
- Exons
- Gene Expression Regulation, Developmental
- Humans
- In Situ Hybridization, Fluorescence
- Intercellular Signaling Peptides and Proteins
- Introns