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Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia

PURPOSE: To describe the phenotype and genotype of three Mainland Chinese families affected by choroideremia (CHM). METHODS: Complete ophthalmic examinations were conducted in three unrelated Chinese families with CHM. Peripheral blood samples were collected from the families for genetic and immunob...

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Detalles Bibliográficos
Autores principales: Zhou, Qi, Liu, Liang, Xu, Fei, Li, Hui, Sergeev, Yuri, Dong, Fangtian, Jiang, Ruxin, MacDonald, Ian, Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283217/
https://www.ncbi.nlm.nih.gov/pubmed/22355242