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Article

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.

Molecular vision - 1 Jan 2011

Lin Ying, Liu Xialin, Luo Lixia, Qu Bo, Jiang Shuhong, Yang Huiqin, Liang Xuanwei, Ye Shaobi, Liu Yizhi

Abstract excerpt

PURPOSE: To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features. METHODS: Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population. Exons 1-15 of CHM...

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Source

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Identifiers

PMID: 22025891
PMCID: PMC3198496

Genes

CHM

Variants

Provenance

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