Article
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta.
Connective tissue research - 1 Jan 2003
Wright J T, Hart P S, Aldred M J, Seow K, Crawford P J M, Hong S P, Gibson C W, Hart T C
Abstract excerpt
X-linked amelogenesis imperfectas (AI) resulting from mutations in the amelogenin gene (AMELX) are phenotypically and genetically diverse. Amelogenin is the predominant matrix protein in developing enamel and is essential for normal enamel formation. To date, 12 allelic AMELX mutations have been described that purportedly result in markedly different expressed amelogenin protein products. We hypothesize that...
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