DSPP mutation in dentinogenesis imperfecta Shields type II

被引：229

作者：

Zhang, XH

Zhao, J

Li, CF

Gao, S

Qiu, CC

Liu, P

Wu, GY

Qiang, BQ

Lo, WHY

Shen, Y ^{[1
]}

机构：

[1] Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing, Peoples R China

[2] Tianjin Univ, Stomatol Hosp, Tianjin 300072, Peoples R China

[3] Natl Ctr Human Genome Res, Beijing 100176, Peoples R China

来源：

NATURE GENETICS | 2001年 / 27卷 / 02期

基金：

中国国家自然科学基金;

关键词：

D O I：

10.1038/84765

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophospho-protein (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.

引用

页码：151 / 152

页数：2

共 12 条

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