Article
Novel WDR72 mutation and cytoplasmic localization.
Journal of dental research - 1 Dec 2010
Lee S-K, Seymen F, Lee K-E, Kang H-Y, Yildirim M, Tuna E Bahar, Gencay K, Hwang Y-H, Nam K H, De La Garza R J, Hu J C-C, Simmer J P, Kim J-W
Abstract excerpt
The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypomaturation AI. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. Haplotype analyses showed that the mutations arose independently...
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