@article{oai:u-ryukyu.repo.nii.ac.jp:02012286,
 author = {Horinouchi, Tomoko and Nozu, Kandai and Yamamura, Tomohiko and Minamikawa, Shogo and Nagano, China and Sakakibara, Nana and Nakanishi, Koichi and Shima, Yuko and Morisada, Naoya and Ishiko, Shinya and Aoto, Yuya and Nagase, Hiroaki and Takeda, Hiroki and Rossanti, Rini and Kaito, Hiroshi and Matsuo, Masafumi and Iijima, Kazumoto},
 issue = {12696},
 journal = {Scientific Reports},
 month = {Sep},
 note = {X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the pathogenicity. However, such analysis is not always available. We conducted a functional splicing assay using a hybrid minigene for seven COL4A5 intronic mutations: one was identified by us and six were found in the Human Gene Mutation Database. The minigene assay revealed exon skipping in four variants, exon skipping and a 10-bp insertion in one variant, and no change in one variant, which appeared not to be pathogenic. For one variant, our assay did not work. The results of all three cases for which transcript data were available were consistent with our assay results. Our findings may help to increase the accuracy of genetic test results and clarify the mechanisms causing aberrant splicing., 論文},
 title = {Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay},
 volume = {9},
 year = {2019}
}