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Mutational analysis of X-linked amelogenesis imperfecta in multiple families

✍ Scribed by S Hart; T Hart; C Gibson; J.T Wright

Book ID
113989007
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
170 KB
Volume
45
Category
Article
ISSN
0003-9969

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πŸ“œ SIMILAR VOLUMES

Characterisation of molecular defects in
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)
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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