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Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Inherited monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals. They are characterized by tremendous genetic heterogeneity and clinical variability involving mutations in approximately 250 genes and more than 20 different clinical phenotypes. Clinical manifestatio...
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| Опубликовано в: : | Sci Rep |
|---|---|
| Главные авторы: | , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2016
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4926080/ https://ncbi.nlm.nih.gov/pubmed/27353947 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep28755 |
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