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Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease
Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here, we sought to identify gene mutations associated with STGD1 in a three-generation Han Chinese pedigree by whole exome sequenc...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Portland Press Ltd.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331664/ https://www.ncbi.nlm.nih.gov/pubmed/30563929 http://dx.doi.org/10.1042/BSR20180872 |