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...
| Príomhchruthaitheoirí: | , , , , , , |
|---|---|
| Formáid: | Journal article |
| Teanga: | English |
| Foilsithe / Cruthaithe: |
Association for Research in Vision and Ophthalmology
2016
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