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North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants
PURPOSE: North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD and use epigenomic datasets from human tissues to gain insights into the effect of NCMD-implic...
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| Publicado no: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8212441/ https://ncbi.nlm.nih.gov/pubmed/34125159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.62.7.16 |
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