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Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

✍ Scribed by Jung-Wook Kim; James P. Simmer; Brent P.-L. Lin; Figen Seymen; John D. Bartlett; Jan C.-C. Hu


Book ID
111256657
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
536 KB
Volume
114
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