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A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.

Annals of the Academy of Medicine, Singapore - 1 Jun 2006

Li Yang, Wang Guanglu, Dong Bing, Sun Xiuying, Turner Matthew J, Kamaya Shin, Zhang Kang

Abstract excerpt

INTRODUCTION: In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy. MATERIALS AND METHODS: Ophthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to...

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PMID: 16865191

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