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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Detalles Bibliográficos
Autores principales: Simunovic, Matthew P., Jolly, Jasleen K., Xue, Kanmin, Edwards, Thomas L., Groppe, Markus, Downes, Susan M., MacLaren, Robert E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2016
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102569/
https://www.ncbi.nlm.nih.gov/pubmed/27820636
http://dx.doi.org/10.1167/iovs.16-20230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102569/
https://www.ncbi.nlm.nih.gov/pubmed/27820636
http://dx.doi.org/10.1167/iovs.16-20230

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