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A rare mutation in the primer binding region of the Amelogenin X homologue gene

✍ Scribed by Agnieszka Maciejewska; Ryszard Pawłowski

Book ID
118447607
Publisher
Elsevier
Year
2009
Tongue
English
Weight
194 KB
Volume
3
Category
Article
ISSN
1872-4973

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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