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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...

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Detalhes bibliográficos
Main Authors: Lee, Sook-Kyung, Lee, Kyung-Eun, Song, Su Jeong, Hyun, Hong-Keun, Lee, Sang-Hoon, Kim, Jung-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591212/
https://ncbi.nlm.nih.gov/pubmed/23509818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/948181
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