Article
A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta.
Archives of oral biology - 1 Mar 2002
Greene S R, Yuan Z A, Wright J T, Amjad H, Abrams W R, Buchanan J A, Trachtenberg D I, Gibson C W
Abstract excerpt
The amelogenin proteins are the most abundant organic components of developing dental enamel. Their importance for the proper mineralization of enamel is evident from the association between previously identified mutations in the X-chromosomal gene that encodes them and the enamel defect amelogenesis imperfecta. In this investigation, an adult male presenting with a severe hypoplastic enamel phenotype was found...
Topics
- Adult
- Amelogenesis Imperfecta
- Amelogenin
- Amino Acid Sequence
- DNA Mutational Analysis
- Dental Enamel Proteins
- Female
- Frameshift Mutation
- Genetic Linkage
- Genotype
- Humans