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Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting...
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| Publicado no: | Biosci Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7268256/ https://ncbi.nlm.nih.gov/pubmed/32436957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20193443 |
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