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Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia
PURPOSE: This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM). MATERIALS AND METHODS: In these two families, the affected individuals and unaffected family members underwent a comprehensive ophthalmic examination including an optica...
Autores principales: | Battu, Rajani, Jeyabalan, Nallathambi, Murthy, Praveen, Reddy, Kavita S, Schouten, Jan SAG, Webers, Caroll A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322709/ https://www.ncbi.nlm.nih.gov/pubmed/28112135 http://dx.doi.org/10.4103/0301-4738.198866 |
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