Ontology highlight
ABSTRACT:
SUBMITTER: Lee SK
PROVIDER: S-EPMC3591212 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Lee Sook-Kyung SK Lee Kyung-Eun KE Song Su Jeong SJ Hyun Hong-Keun HK Lee Sang-Hoon SH Kim Jung-Wook JW
BioMed research international 20121227
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 endoplasmic reticulum (ER). In this study, we identified a Korean family with dentinogenesis imperfecta type III. To identify the disease causing mutation in this family, we performed mutational analysis ba ...[more]