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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479065/ https://www.ncbi.nlm.nih.gov/pubmed/32913387 |