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Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
Mutations in the gene RPE65 (OMIM: 180069) are recessively inherited and known to cause Leber congenital amaurosis. Recently, the mutation D477G in RPE65 has been identified as a cause of autosomal dominant retinitis pigmentosa (RP). Variable expressivity of this disease has been reported, as carrie...
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| Gepubliceerd in: | Cold Spring Harb Mol Case Stud |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Cold Spring Harbor Laboratory Press
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6996519/ https://ncbi.nlm.nih.gov/pubmed/32014860 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004952 |
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