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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...

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Detalhes bibliográficos
Publicado no:Indian J Ophthalmol
Main Authors: Battu, Rajani, Jeyabalan, Nallathambi, Murthy, Praveen, Reddy, Kavita S, Schouten, Jan SAG, Webers, Caroll A
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5322709/
https://ncbi.nlm.nih.gov/pubmed/28112135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0301-4738.198866
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