Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation

Kubota Daiki; Gocho Kiyoko; Akeo Keiichiro; Kikuchi Sachiko; Sugahara Michitaka; Matsumoto Celso Soiti; Shinoda Kei; Mizota Atsushi; Yamaki Kunihiko; Takahashi Hiroshi; Kameya Shuhei

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Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation

机译：与新的BEST1突变相关的常染色体隐性隐性最佳疾病的家庭的详细分析

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摘要

To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents.

机译：描述患有常染色体隐性隐性最佳疾病（ARB）的患者及其健康父母的临床和遗传发现。

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来源
《Documenta Ophthalmologica: Advances in Ophthalmology》 |2016年第3期|共11页
作者
Kubota Daiki; Gocho Kiyoko; Akeo Keiichiro; Kikuchi Sachiko; Sugahara Michitaka; Matsumoto Celso Soiti; Shinoda Kei; Mizota Atsushi; Yamaki Kunihiko; Takahashi Hiroshi; Kameya Shuhei;
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正文语种 eng
中图分类眼科学;
关键词
Autosomal recessive bestrophinopathy; BEST1; Fundus autofluorescence; Electro-oculography (EOG);

机译：常染色体隐性性骨质疏松症;BEST1;眼底自发荧光;眼电图（EOG）;

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专利

1. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation [J] . Kubota Daiki, Gocho Kiyoko, Akeo Keiichiro, Documenta Ophthalmologica: Advances in Ophthalmology . 2016,第3期

机译：与新的BEST1突变相关的常染色体隐性隐性最佳疾病的家庭的详细分析
2. NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY [J] . Fung Adrian T., Yzer Suzanne, Goldberg Naomi, Retina . 2015,第4期

机译：常染色体继发性皮肤病的新BEST1突变
3. Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation [J] . Adiv A. Johnson, Lori A. Bachman, Benjamin J. Gilles, Investigative ophthalmology & visual science . 2015,第8期

机译：常染色体隐性性骨质疏松症与新型BEST1突变患者中Bestrophin-1阴离子通道功能丧失无关。
4. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation [O] . Daiki Kubota, Kiyoko Gocho, Keiichiro Akeo, -1

机译：与新的BEST1突变相关的常染色体隐性隐性最佳疾病的家庭的详细分析
7. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation [O] . Daiki Kubota, Kiyoko Gocho, Keiichiro Akeo, 2016

机译：与新的BEST1突变相关的常染色体隐性隐性最佳疾病的家庭的详细分析

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation

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