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References

These sources were used to develop the Genetics Home Reference gene summary on the AMELX gene.

Deutsch D, Haze-Filderman A, Blumenfeld A, Dafni L, Leiser Y, Shay B, Gruenbaum-Cohen Y, Rosenfeld E, Fermon E, Zimmermann B, Haegewald S, Bernimoulin JP, Taylor AL. Amelogenin, a major structural protein in mineralizing enamel, is also expressed in soft tissues: brain and cells of the hematopoietic system. Eur J Oral Sci. 2006 May;114 Suppl 1:183-9; discussion 201-2, 381. PubMed citation
Entrez Gene
Greene SR, Yuan ZA, Wright JT, Amjad H, Abrams WR, Buchanan JA, Trachtenberg DI, Gibson CW. A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. Arch Oral Biol. 2002 Mar;47(3):211-7. PubMed citation
Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT. Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. Arch Oral Biol. 2002 Apr;47(4):261-5. PubMed citation
Kida M, Sakiyama Y, Matsuda A, Takabayashi S, Ochi H, Sekiguchi H, Minamitake S, Ariga T. A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta. J Dent Res. 2007 Jan;86(1):69-72. PubMed citation
Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res. 2004 May;83(5):378-83. PubMed citation
Margolis HC, Beniash E, Fowler CE. Role of macromolecular assembly of enamel matrix proteins in enamel formation. J Dent Res. 2006 Sep;85(9):775-93. Review. PubMed citation
Stephanopoulos G, Garefalaki ME, Lyroudia K. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005 Dec;84(12):1117-26. Review. PubMed citation
Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res. 2003;44 Suppl 1:72-8. Review. PubMed citation
Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006 Dec 1;140(23):2547-55. Review. PubMed citation


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