The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa

PURPOSE: Seven founder mutations in ABCA4 underlie a large proportion of Stargardt disease in the South African Caucasian population of Afrikaner descent. The Quick 7 assay was locally developed to test for these specific mutations and is available through the National Health Laboratory Service. How...

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Detalles Bibliográficos
Autores principales: Midgley, Nicole, Roberts, Lisa, Rebello, George, Ramesar, Raj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479065/
https://www.ncbi.nlm.nih.gov/pubmed/32913387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479065/
https://www.ncbi.nlm.nih.gov/pubmed/32913387

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