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Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta

✍ Scribed by Maria Lagerström-fermér; Mats Nilsson; Birgitta Bäckman; Eduardo Salido; Larry Shapiro; Ulf Pettersson; Ulf Landegren

Book ID: 116154039
Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 443 KB
Volume: 26
Category: Article
ISSN: 0888-7543
DOI: 10.1016/0888-7543(95)80097-6

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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