Article
Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2011
Nieminen Pekka, Papagiannoulis-Lascarides Lisa, Waltimo-Siren Janna, Ollila Päivi, Karjalainen Sara, Arte Sirpa, Veerkamp Jaap, Tallon Walton Victoria, Chimenos Küstner Eduard, Siltanen Tarja, Holappa Heidi, Lukinmaa Pirjo-Liisa, Alaluusua Satu
Abstract excerpt
We describe results from a mutational analysis of the region of the dentin sialophosphoprotein (DSPP) gene encoding dentin phosphoprotein (DPP) in 12 families with dominantly inherited dentin diseases. In eight families (five mutations in the N-terminal third of DPP), the clinical and radiologic features were uniform and compatible with dentin dysplasia type II (DD-II) with major clinical signs in the deciduous...
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