Article

Whole Exome Sequencing Identifies a Novel COL1A1 Missense Mutation Causing Dentinogenesis Imperfecta Type I Without Skeletal Abnormalities

2021-04-22

Abstract excerpt

<h4>Background: </h4> ： Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility, blue sclerae and dentinogenesis imperfecta (DGI), which are mainly caused by a mutation of the COL1A1 or COL1A2 genes that encode type I procollagen. <h4>Methods: </h4>: The ultrastructure of dentin was analyzed by micro-CT, scanning electron microscopy, energy-dispersive spectroscopy analysis , nanoindentat...

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Literature Corpus work: a649c77c-a301-5a57-8dc3-ec41ec44b97f
DOI: 10.21203/rs.3.rs-407777/v1

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