Article
Choroideremia gene testing
1 Jul 2004
Abstract excerpt
Choroideremia is a chorioretinal degeneration displaying X-linked recessive inheritance. In recent years, technological advances have increased the accessibility of genetic testing for mutations in the gene that lead to this disorder. The disorder itself, approaches for its detection and the steps and the rationale behind testing are outlined in this review. All mutations in the choroideremia gene result in the...
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