Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization

Archives of Oral Biology(2023)

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摘要
In this study, we identified three novel frameshift mutations of dentin sialophosphoprotein gene related to inherited dentin defects. These mutations are speculated to cause abnormal coding of dentin phosphoprotein C-terminus, which affect dentin mineralization. These results expand the spectrum of dentin sialophosphoprotein gene mutations causing inheritable dentin defects and broaden our understanding of the biological mechanisms by which dentin forms.
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关键词
Dentin phosphoprotein,Dentin sialophosphoprotein,Frameshift mutation,Inheritable dentin defect,Mineralization
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