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Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lip...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064356/ https://www.ncbi.nlm.nih.gov/pubmed/27739528 http://dx.doi.org/10.1038/srep35414 |