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A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW. Cho TJ, et al. Among authors: kim kj, kim hn, kim oh, kim jw. Am J Hum Genet. 2012 Aug 10;91(2):343-8. doi: 10.1016/j.ajhg.2012.06.005. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863190 Free PMC article.
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW. Seymen F, et al. Among authors: kim yj, kim th, kim jw. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205. doi: 10.1016/j.ajhg.2016.09.018. Epub 2016 Oct 27. Am J Hum Genet. 2016. PMID: 27843125 Free PMC article.
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.
Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW. Kim YJ, et al. Among authors: kim jw. Arch Oral Biol. 2017 Apr;76:61-65. doi: 10.1016/j.archoralbio.2017.01.004. Epub 2017 Jan 12. Arch Oral Biol. 2017. PMID: 28130977
8,736 results