Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

Kurata Kentaro; Hosono Katsuhiro; Hotta Yoshihiro

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Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

机译：RP1相关常染色体隐性视网膜炎的日本患者的临床和遗传发现

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摘要

Purpose This study reports the ophthalmic and genetic findings of a Japanese patient with autosomal recessive retinitis pigmentosa (arRP) caused by retinitis pigmentosa 1 (RP1) mutations.

机译：目的本研究报告了日本患者的眼科和遗传发现，用视网膜炎1（RP1）突变引起的常染色体隐性视网膜炎粒子（ARRP）。

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来源
《Documenta Ophthalmologica: Advances in Ophthalmology》 |2018年第1期|共10页
作者
Kurata Kentaro; Hosono Katsuhiro; Hotta Yoshihiro;
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作者单位

Hamamatsu Univ Dept Ophthalmol Sch Med Higashi Ku 1-20-1 Handayama Hamamatsu Shizuoka 4313192;

Hamamatsu Univ Dept Ophthalmol Sch Med Higashi Ku 1-20-1 Handayama Hamamatsu Shizuoka 4313192;

Hamamatsu Univ Dept Ophthalmol Sch Med Higashi Ku 1-20-1 Handayama Hamamatsu Shizuoka 4313192;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
Retinitis pigmentosa; RP1 gene; Autosomal recessive; Targeted next-generation sequencing;

机译：retinitis pigmentosa;RP1基因;常染色体隐性;有针对性的下一代测序;

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专利

1. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa [J] . Kurata Kentaro, Hosono Katsuhiro, Hotta Yoshihiro Documenta Ophthalmologica: Advances in Ophthalmology . 2018,第1期

机译：RP1相关常染色体隐性视网膜炎的日本患者的临床和遗传发现
2. High prevalence of mutations in the EYS gene in japanese patients with autosomal recessive retinitis pigmentosa [J] . IwanamiM., OshikawaM., NishidaT., Investigative ophthalmology & visual science . 2012,第2期

机译：日本常染色体隐性遗传性视网膜色素变性患者的EYS基因突变高发生率
3. High Prevalence of Mutations in the EYS Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa [J] . Masaki Iwanami, Mio Oshikawa, Tomomi Nishida, Investigative ophthalmology & visual science . 2012,第2期

机译：日本常染色体隐性色素性视网膜炎患者中EYS基因突变的高发生率
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
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. Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa [O] . Masaki Iwanami, Akio Oishi, Ken Ogino, 2019

机译：EYS基因中的五个主要序列变异和拷贝数变异占日本常染色体隐性和单纯性视网膜炎色素变性患者的三分之一
7. Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients [O] . Reem Mebed, Yasser B.M. Ali, Nahed Solouma, 2015

机译：常染色体隐性视网膜色素变性几乎不涉及视紫红质突变：埃及视网膜色素变性患者的初步研究

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

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