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...
| Autori principali: | , , , , , , |
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| Natura: | Journal article |
| Lingua: | English |
| Pubblicazione: |
Association for Research in Vision and Ophthalmology
2016
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