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  • Title: DNA diagnosis of X-linked amelogenesis imperfecta (AIH1).
    Author: Lench NJ, Brook AH.
    Journal: J Oral Pathol Med; 1997 Mar; 26(3):135-7. PubMed ID: 9083938.
    Abstract:
    Mutations in the amelogenin gene, AMGX, are known to cause X-linked amelogenesis imperfecta (AIH1). We have used DNA single-strand conformational polymorphism analysis and DNA sequencing to diagnose this disorder unequivocally in two related boys aged 3 and 7 years, respectively, from a family in which an existing mutation in the amelogenin gene is segregating.
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