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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
Main Authors: EL-SAYED, W., SHORE, R.C., PARRY, D.A., INGLEHEARN, C.F., MIGHELL, A.J.
格式: Artigo
語言:Inglês
出版: 2009
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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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