DSPP mutation in dentinogenesis imperfecta Shields type II.

Autor: Zhang, Xiaohai, Zhao, Jun, Li, Changfu, Gao, Shan, Qiu, Changchun, Liu, Ping, Wu, Guanyun, Qiang, Boqin, Lo, Wilson H.Y., Shen, Yan
Předmět:
Zdroj: Nature Genetics; Feb2001, Vol. 27 Issue 2, p151, 2p
Abstrakt: We identified a nonsense mutation (GIn45stop) 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index