机构：[1]Beijing Institute of Ophthalmology, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院[2]Department of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, China临床科室眼科眼科首都医科大学附属北京同仁医院首都医科大学附属同仁医院[3]Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah Health Sciences Center, Utah, USA
Introduction: In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy. Materials and Methods: Oplithalmologic 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-amplifiedDNA fragments, correspondingto the 11 exons of the gene. Results: Sequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions. Conclusions: A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.
第一作者机构：[1]Beijing Institute of Ophthalmology, China
通讯作者：
通讯机构：[3]Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah Health Sciences Center, Utah, USA[*1]Eccles Institute of Human Genetics, 15 North 2030 East, Bldg 533, University of Utah, Salt Lake City, UT 84132, USA
推荐引用方式(GB/T 7714)：
Li Yang,Wang Guanglu,Dong Bing,et al.A novel mutation of the VMD2 gene in a chinese family with best vitelliform macular dystrophy[J].ANNALS ACADEMY OF MEDICINE SINGAPORE.2006,35(6):408-410.
APA：
Li, Yang,Wang, Guanglu,Dong, Bing,Sun, Xiuying,Turner, Matthew J....&Zhang, Kang.(2006).A novel mutation of the VMD2 gene in a chinese family with best vitelliform macular dystrophy.ANNALS ACADEMY OF MEDICINE SINGAPORE,35,(6)
MLA：
Li, Yang,et al."A novel mutation of the VMD2 gene in a chinese family with best vitelliform macular dystrophy".ANNALS ACADEMY OF MEDICINE SINGAPORE 35..6(2006):408-410
