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Mutations in human IFT140 cause non-syndromic retinal degeneration
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically heterogeneous retinal degenerative disorders. Despite the identification of a number of genes involved in LCA and RP, the genetic etiology remains unknown in many patients. In this study, we aimed to identify novel di...
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| Publicat a: | Hum Genet |
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| Autors principals: | , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4565766/ https://ncbi.nlm.nih.gov/pubmed/26216056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1586-x |
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