Article
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Human mutation - 1 Oct 2014
Zernant Jana, Collison Frederick T, Lee Winston, Fishman Gerald A, Noupuu Kalev, Yuan Bo, Cai Carolyn, Lupski James R, Yannuzzi Lawrence A, Tsang Stephen H, Allikmets Rando
Abstract excerpt
Autosomal recessive Stargardt disease (STGD1) is caused by hundreds of mutations in the ABCA4 gene, which are often specific to racial and ethnic groups. Here, we investigated the ABCA4 variation and their phenotypic expression in a cohort of 44 patients of African American descent, a previously under-characterized racial group. Patients were screened for mutations in ABCA4 by next-generation sequencing and...
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