NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

Fung Adrian T.; Yzer Suzanne; Goldberg Naomi; Wang Hao; Nissen Michael; Giovannini Alfonso; Merriam Joanna E.; Bukanova Elena N.; Cai Carolyn; Yannuzzi Lawrence A.; Tsang Stephen H.; Allikmets Rando

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NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

机译：常染色体继发性皮肤病的新BEST1突变

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Purpose: To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations.

机译：目的：报道常染色体隐性性最佳胆碱症和携带者的眼表型，并描述新的BEST1突变。

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来源
《Retina》 |2015年第4期|共10页
作者
Fung Adrian T.; Yzer Suzanne; Goldberg Naomi; Wang Hao; Nissen Michael; Giovannini Alfonso; Merriam Joanna E.; Bukanova Elena N.; Cai Carolyn; Yannuzzi Lawrence A.; Tsang Stephen H.; Allikmets Rando;
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正文语种 eng
中图分类眼科学;
关键词
autosomal recessive bestrophinopathy; BEST1 gene; deleterious mutations; vitelliform;

机译：常染色体隐性骨质疏松症;BEST1基因;轻度突变;玻璃状;

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专利

1. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy [J] . Jansson Ragnhild Wivestad, Berland Siren, Bredrup Cecilie, Ophthalmic genetics . 2016,第2期

机译：BEST1基因中的双等位基因突变：常染色体隐性Bestrophinopathy的其他家庭。
2. 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
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. New BEST1 mutations in autosomal recessive bestrophinopathy [O] . Rando Allikmets, Adrian Fung, Suzanne Yzer, -1

机译：常染色体隐性性骨质疏松症的新BEST1突变
7. Phenotype in homozygous and heterozygous carriers of BEST1 mutations in autosomal recessive Bestrophinopathy [O] . 2018

机译：常染色体隐性营养素中最佳蛋白纯合和杂合载体的表型

NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

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