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Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

dc.contributor.authorSeymen, Figen
dc.contributor.authorHERZOG, Curtis R.
dc.contributor.authorReid, Bryan M.
dc.contributor.authorSIMMER, James P.
dc.contributor.authorHU, Jan C-C.
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorTuna, Elif Bahar
dc.date.accessioned2021-03-04T12:32:00Z
dc.date.available2021-03-04T12:32:00Z
dc.date.issued2015
dc.identifier.citationHERZOG C. R. , Reid B. M. , Seymen F., Koruyucu M., Tuna E. B. , SIMMER J. P. , HU J. C. , "Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation", ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY, cilt.119, sa.2, 2015
dc.identifier.issn2212-4403
dc.identifier.othervv_1032021
dc.identifier.otherav_77ca449e-602e-4eec-a391-c8eb66a4d55a
dc.identifier.urihttp://hdl.handle.net/20.500.12627/82213
dc.identifier.urihttps://doi.org/10.1016/j.oooo.2014.09.003
dc.description.abstractIn this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium- dependent sodium- calcium exchanger that is critical for hardening dental enamel during tooth development.
dc.language.isoeng
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDiş Hekimliği
dc.subjectKlinik Tıp
dc.subjectDİŞ HEKİMLİĞİ, ORAL CERRAHİ VE TIP
dc.titleHypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation
dc.typeMakale
dc.relation.journalORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY
dc.contributor.departmentUniversity of Michigan System , ,
dc.identifier.volume119
dc.identifier.issue2
dc.contributor.firstauthorID48054


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