Article
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.
Journal of dental research - 1 May 2004
Kim J-W, Simmer J P, Hu Y Y, Lin B P-L, Boyd C, Wright J T, Yamada C J M, Rayes S K, Feigal R J, Hu J C-C
Abstract excerpt
Mutations in the human amelogenin gene (AMELX, Xp22.3) cause a phenotypically diverse set of inherited enamel malformations. We hypothesize that the effects of specific mutations on amelogenin protein structure and expression will correlate with the enamel phenotype, clarify amelogenin structure/function relationships, and improve the clinical diagnosis of X-linked amelogenesis imperfecta (AI). We have identified...
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