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Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
- Source :
- Oral Surgery, Oral Medicine, Oral Pathology & Oral Radiology; Feb2015, Vol. 119 Issue 2, pe77-e81, 1p
- Publication Year :
- 2015
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 22124403
- Volume :
- 119
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Oral Surgery, Oral Medicine, Oral Pathology & Oral Radiology
- Publication Type :
- Academic Journal
- Accession number :
- 100364011
- Full Text :
- https://doi.org/10.1016/j.oooo.2014.09.003