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. 2001 Feb;27(2):151-2.
doi: 10.1038/84765.

DSPP mutation in dentinogenesis imperfecta Shields type II

X Zhang  1 , J Zhao, C Li, S Gao, C Qiu, P Liu, G Wu, B Qiang, W H Lo, Y Shen
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DSPP mutation in dentinogenesis imperfecta Shields type II

X Zhang et al. Nat Genet. 2001 Feb.

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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  • Soundbites.
    Patel P. Patel P. Nat Genet. 2001 Feb;27(2):129-30. doi: 10.1038/84728. Nat Genet. 2001. PMID: 11175770

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