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CRB1 mutations in inherited retinal dystrophies
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from Leber Congenital Amaurosis (LCA) to rod-cone dystrophy (also called retinitis pigmentosa (RP)). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fu...
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| Asıl Yazarlar: | , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3293109/ https://ncbi.nlm.nih.gov/pubmed/22065545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21653 |
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