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The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype
PURPOSE: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. METHODS: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic eval...
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| Publicado no: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5102569/ https://ncbi.nlm.nih.gov/pubmed/27820636 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-20230 |
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