Article
DNA diagnosis of X-linked amelogenesis imperfecta (AIH1).
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology - 1 Mar 1997
Lench N J, Brook A H
Abstract excerpt
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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