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

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 und...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283973/
https://www.ncbi.nlm.nih.gov/pubmed/25066811
http://dx.doi.org/10.1002/humu.22626

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