Article
Identification of a novel VMD2 mutation in Japanese patients with Best disease.
Ophthalmic genetics - 1 Jun 2002
Yanagi Yasuo, Sekine Hisaki, Mori Mikiro
Abstract excerpt
PURPOSE: To report a novel VMD2 gene mutation in a Japanese family with Best disease and the clinical phenotype of the patients. PATIENTS AND METHODS: Mutational analysis for VMD2 was performed by direct sequencing in two members of a Japanese family with Best disease. Clinical examination included visual acuity, electro-oculography (EOG), and fundus examination. RESULTS: A T990C mutation of the VMD2 gene was...
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