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Article

DSPP mutation in dentinogenesis imperfecta Shields type II.

Nature genetics - 1 Feb 2001

Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo W H, Shen Y

Abstract excerpt

We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.

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Source

Identifiers

PMID: 11175779
DOI: 10.1038/84765

Genes

DSPP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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DSPP mutation in dentinogenesis imperfecta Shields type II.PMID 11175779Read ↗

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A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.Semantic proximity Read ↗

Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.Semantic proximity Read ↗

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.Semantic proximity Read ↗

Identification of DSPP Novel Variants and Phenotype Analysis in dentinogenesis dysplasia shields type II PatientsSemantic proximity Read ↗

Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.Semantic proximity Read ↗

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.Semantic proximity Read ↗

Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Semantic proximity Read ↗

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.Semantic proximity Read ↗

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.Semantic proximity Read ↗

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