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A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect
Mutations in the DSPP gene have been identified in nonsyndromic hereditary dentin defects, but the genotype-phenotype correlations are not fully understood. Recently, it has been demonstrated that the mutations of DSPP affecting the IPV leader sequence result in mutant DSPP retention in rough endopl...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591212/ https://www.ncbi.nlm.nih.gov/pubmed/23509818 http://dx.doi.org/10.1155/2013/948181 |