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Article

A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.

BioMed research international - 1 Jan 2013

Lee Sook-Kyung, Lee Kyung-Eun, Song Su Jeong, Hyun Hong-Keun, Lee Sang-Hoon, Kim Jung-Wook

Abstract excerpt

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...

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Source

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Identifiers

PMID: 23509818
DOI: 10.1155/2013/948181
PMCID: PMC3591212

Genes

DSPP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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