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Ultrastructural Analyses of Deciduous Teeth affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation
Nonsense mutations in FAM83H are a recently described underlying cause of Autosomal Dominant (AD) hypocalcified Amelogenesis Imperfecta (AI). OBJECTIVE: This study aims to report a novel c.1374C>A p.Y458X nonsense mutation and describe the associated ultrastructural phenotype of deciduous teeth....
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| 發表在: | Cells Tissues Organs |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2009
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432877/ https://ncbi.nlm.nih.gov/pubmed/20160442 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000252801 |
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