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Altered Enamelin Phosphorylation Site Causes Amelogenesis Imperfecta
Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI). Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective. The proband and his father have an AG insertion (g.13185_13186insAG; p.422FsX448) in ENA...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
SAGE Publications
2010
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2889023/ https://ncbi.nlm.nih.gov/pubmed/20439930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0022034510365662 |
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