Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

Emmanuelle LacassagneAurore DhuezFlorence RigaudièreAnouk DansaultChristelle VêtuKarine BigotVéronique VieiraBernard PuechSabine Defoort-DhellemmesMarc Abitbol

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Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

机译：一个法国家庭的表型变异性，其BEST1基因发生新突变，导致多灶性最佳玻璃状黄斑营养不良

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《Molecular vision》 |2011年第2011期|共页
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Emmanuelle LacassagneAurore DhuezFlorence RigaudièreAnouk DansaultChristelle VêtuKarine BigotVéronique VieiraBernard PuechSabine Defoort-DhellemmesMarc Abitbol;
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中图分类生物化学;
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1. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy [J] . Emmanuelle LacassagneAurore DhuezFlorence RigaudièreAnouk DansaultChristelle VêtuKarine BigotVéronique VieiraBernard PuechSabine Defoort-DhellemmesMarc Abitbol Molecular vision . 2011,第2011期

机译：一个法国家庭的表型变异性，其BEST1基因发生新突变，导致多灶性最佳玻璃状黄斑营养不良
2. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy [J] . Abitbol Marc, Bigot Karine, Dansault Anouk, Molecular vision . 2011,第2011期

机译：一个法国家庭的表型变异性，其BEST1基因发生新突变，导致多灶性最佳玻璃状黄斑营养不良
3. A NOVEL p.Asp304Gly MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY [J] . Peiretti Enrico, Caminiti Giulia, Forma Gina, Retina . 2016,第9期

机译：新的p.Asp304Gly突变与非典型最佳卵形黄斑型营养不良表型和高的家族变异性相关的Best1基因。
4. A Simple DNA Chip for Diagnosis of Most Common Corneal Dystrophies Caused by βigh3 Gene Mutations [C] . So Young Yoo, Tae-im Kim, Sang Yup Lee, Frontiers in the Convergence of Bioscience and Information Technologies . 2007

机译：一种简单的DNA芯片，用于诊断βigh3基因突变引起的最常见的角膜营销蛋白酶
5. The effect of docosahexaenoic acid (DHA) supplementation on the macular function in patients with best vitelliform macular dystrophy [D] . Lee, Thomas Kin Man. 2005

机译：二十二碳六烯酸（DHA）补充对最佳玻璃体样黄斑营养不良患者黄斑功能的影响
6. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy [O] . Emmanuelle Lacassagne, Aurore Dhuez, Florence Rigaudière, 2011

机译：法国家庭的表型变异性BEST1基因发生新突变导致多灶性最佳玻璃状黄斑营养不良
7. Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy [O] . Elliott H. Sohn 2009

机译：由于新的Glu292lys在最佳营养不良的外显子8的Glu292lys变化引起的表型变异

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

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