Article
Jagged1 mutations in alagille syndrome.
Human mutation - 1 Jan 2001
Spinner N B, Colliton R P, Crosnier C, Krantz I D, Hadchouel M, Meunier-Rotival M
Abstract excerpt
We have summarized data on 233 Alagille syndrome patients reported with mutations in Jagged1 (JAG1). This data has been published by seven different laboratories in Europe, the United States, Australia, and Japan. Mutations have been demonstrated in 60-75% of patients with a clinically confirmed diagnosis of Alagille syndrome. Total gene deletions have been reported in 3-7% of patients, and the remainder have...
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