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Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole-exome sequencing
Retinitis pigmentosa (RP) is a common form of inherited retinal degeneration that causes progressive loss of vision or adult blindness, characterized by the impairment of rod and cone photoreceptors. At present, mutations in >60 pathogenic genes have been confirmed to cause RP. The predominant mo...
Salvato in:
| Pubblicato in: | Mol Med Rep |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
D.A. Spandidos
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6236299/ https://ncbi.nlm.nih.gov/pubmed/30280194 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.9530 |
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