Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients

Abstract

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… (More)
DOI: 10.1002/humu.22626

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@inproceedings{Zernant2014GeneticAC, title={Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients}, author={Jana Zernant and Frederick T. Collison and Winston Lee and Gerald Allen Fishman and Kalev N{\~o}upuu and Bo Yuan and Carolyn Cai and James R Lupski and Lawrence A. Yannuzzi and Stephen H. Tsang and Rando L. Allikmets}, booktitle={Human mutation}, year={2014} }