Article
Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene.
Retina (Philadelphia, Pa.) - 1 Dec 2004
Itabashi Toshitaka, Wada Yuko, Kawamura Miyuki, Sato Hajime, Tamai Makoto
Abstract excerpt
PURPOSE: To characterize the clinical features of two Japanese families with choroideremia associated with a 402delT and a 555-556delAG mutation in the choroideremia gene (CHM). METHODS: Four affected members and one obligate carrier from two Japanese families with choroideremia were studied. To detect mutations of the CHM gene, the products of polymerase chain reaction were directly sequenced in both directions....
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