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Hypomaturation Amelogenesis Imperfecta Caused By A Novel SLC24A4 Mutation
In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151T>G; c.1317T>G; p.Leu436Arg) in SLC24A4, a gene encoding a potassium-dependent sodium-calcium exchanger that is critical for hardening den...
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| izdano v: | Oral Surg Oral Med Oral Pathol Oral Radiol |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4291293/ https://ncbi.nlm.nih.gov/pubmed/25442250 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.oooo.2014.09.003 |
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