Article
Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
Genetic testing - 1 Jan 2007
Samejima Hazuki, Torii Chiharu, Kosaki Rika, Kurosawa Kenji, Yoshihashi Hiroshi, Muroya Koji, Okamoto Nobuhiko, Watanabe Yoriko, Kosho Tomoki, Kubota Michiru, Matsuda Osamu, Goto Miwa, Izumi Kosuke, Takahashi Takao, Kosaki Kenjiro
Abstract excerpt
Mutations in the JAG1 gene and the NOTCH2 gene cause Alagille syndrome. At present, however, genetic testing of Alagille syndrome is not commonly applied in clinical settings because the currently available assays are technically and financially demanding, mainly because of the size of the genes. In the present study, we optimized the highly sensitive and specific mutation scanning method automated denaturing...
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