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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 |