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. We have generated a cloned contig of the critical region and used fluorescent in situ hybridization on cells from...
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