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Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region.
Yonezawa S, Yoshizaki N, Kageyama T, Takahashi T, Sano M, Tokita Y, Masaki S, Inaguma Y, Hanai A, Sakurai N, Yoshiki A, Kusakabe M, Moriyama A, Nakayama A. Yonezawa S, et al. Among authors: tokita y. Hum Mutat. 2006 Jan;27(1):88-97. doi: 10.1002/humu.20266. Hum Mutat. 2006. PMID: 16281288
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.
Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, Tokita Y. Tatematsu T, et al. Among authors: tokita y. PLoS One. 2015 Jun 1;10(6):e0128227. doi: 10.1371/journal.pone.0128227. eCollection 2015. PLoS One. 2015. PMID: 26030286 Free PMC article.
A novel PITX2 mutation causing iris hypoplasia.
Kimura M, Tokita Y, Machida J, Shibata A, Tatematsu T, Tsurusaki Y, Miyake N, Saitsu H, Miyachi H, Shimozato K, Matsumoto N, Nakashima M. Kimura M, et al. Among authors: tokita y. Hum Genome Var. 2014 Jul 31;1:14005. doi: 10.1038/hgv.2014.5. eCollection 2014. Hum Genome Var. 2014. PMID: 27081499 Free PMC article.
231 results