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Reduced hydrolysis of amelogenin may result in X-linked amelogenesis imperfecta

✍ Scribed by Wu Li; Carolyn W Gibson; William R Abrams; David W Andrews; Pamela K DenBesten

Book ID
117640213
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
198 KB
Volume
19
Category
Article
ISSN
0945-053X

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Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development. Disturbances of enamel formation occur in amelogenesis imperfecta, a clinically heterogenous group of inherited disorders characterised by defective enamel biomineralisation. An a

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✍ Michael J. Aldred; Peter J. M. Crawford; Enriqueta Roberts; Nicholas S. T. Thoma πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 625 KB

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this de