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Stargardt macular dystrophy: common ABCA4 mutations in South Africa—establishment of a rapid genetic test and relating risk to patients

PURPOSE: Based on the previous indications of founder ATP-binding cassette sub-family A member 4 gene (ABCA4) mutations in a South African subpopulation, the purpose was to devise a mechanism for identifying common disease-causing mutations in subjects with ABCA4-associated retinopathies (AARs). Fac...

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Autors principals: Roberts, Lisa J., Nossek, Christel A., Greenberg, L. Jacquie, Ramesar, Rajkumar S.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3275638/
https://ncbi.nlm.nih.gov/pubmed/22328824
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