| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4002258 | American Journal of Ophthalmology | 2013 | 10 Pages |
Abstract
Three ABCA4 sequence variations were identified exclusively in 10 unrelated African American patients: p.L1201R and p.R1300Q likely represent nonpathogenic sequence variants, whereas the p.R2107H substitution appears to be pathogenic. Characterization of population-specific disease alleles may have important implications for the development of genetic screening algorithms.
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Authors
Virginia Miraldi Utz, Aimee V. Chappelow, Meghan J. Marino, Craig D. Beight, Gwen M. Sturgill-Short, Gayle J.T. Pauer, Susan Crowe, Stephanie A. Hagstrom, Elias I. Traboulsi,