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Nat Genet. 2001 Feb;27(2):151-2.

DSPP mutation in dentinogenesis imperfecta Shields type II.

Author information

1
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.

Abstract

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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PMID:
11175779
DOI:
10.1038/84765
[Indexed for MEDLINE]

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