dc.contributor.author | Seymen, Figen | |
dc.contributor.author | HERZOG, Curtis R. | |
dc.contributor.author | Reid, Bryan M. | |
dc.contributor.author | SIMMER, James P. | |
dc.contributor.author | HU, Jan C-C. | |
dc.contributor.author | Koruyucu, Mine | |
dc.contributor.author | Tuna, Elif Bahar | |
dc.date.accessioned | 2021-03-04T12:32:00Z | |
dc.date.available | 2021-03-04T12:32:00Z | |
dc.date.issued | 2015 | |
dc.identifier.citation | HERZOG 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.issn | 2212-4403 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_77ca449e-602e-4eec-a391-c8eb66a4d55a | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/82213 | |
dc.identifier.uri | https://doi.org/10.1016/j.oooo.2014.09.003 | |
dc.description.abstract | In 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.iso | eng | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Diş Hekimliği | |
dc.subject | Klinik Tıp | |
dc.subject | DİŞ HEKİMLİĞİ, ORAL CERRAHİ VE TIP | |
dc.title | Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation | |
dc.type | Makale | |
dc.relation.journal | ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY | |
dc.contributor.department | University of Michigan System , , | |
dc.identifier.volume | 119 | |
dc.identifier.issue | 2 | |
dc.contributor.firstauthorID | 48054 | |