Učitavanje...
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate
Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. Therapeutic trials in patients depend on identifying causal ABCA4 variants in trans, which is complicated by extrem...
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| Izdano u: | Eur J Hum Genet |
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| Glavni autori: | , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer International Publishing
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7316815/ https://ncbi.nlm.nih.gov/pubmed/32467599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0581-4 |
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