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Article

Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.

Molecular vision - 1 Jan 2012

Zhou Qi, Liu Liang, Xu Fei, Li Hui, Sergeev Yuri, Dong Fangtian, Jiang Ruxin, MacDonald Ian, Sui Ruifang

Abstract excerpt

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 immunoblot analysis. All exons and flanking intronic regions of the gene encoding Rab escort protein-1 (Rep-1) were...

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Identifiers

PMID: 22355242
PMCID: PMC3283217

Genes

CHM

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