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Target gene analyses of 39 amelogenesis imperfecta kindreds

✍ Scribed by Hui-Chen Chan; Ninna M. R. P. Estrella; Rachel N. Milkovich; Jung-Wook Kim; James P. Simmer; Jan C-C. Hu


Book ID
114797298
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
837 KB
Volume
119
Category
Article
ISSN
0909-8836

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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