Article
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
Nature genetics - 1 Jul 1997
Li L, Krantz I D, Deng Y, Genin A, Banta A B, Collins C C, Qi M, Trask B J, Kuo W L, Cochran J, Costa T, Pierpont M E, Rand E B, Piccoli D A, Hood L, Spinner N B
Abstract excerpt
Alagille syndrome is an autosomal dominant disorder characterized by abnormal development of liver, heart, skeleton, eye, face and, less frequently, kidney. Analyses of many patients with cytogenetic deletions or rearrangements have mapped the gene to chromosome 20p12, although deletions are found in a relatively small proportion of patients (< 7%). We have mapped the human Jagged1 gene (JAG1), encoding a ligand...
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