OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

Tetsuya Hamahata; Takuro Fujimaki; Keiko Fujiki; Ai Miyazaki; Atsushi Mizota; Akira Murakami

首页> 外文期刊>Japanese Journal of Ophthalmology >OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

【24h】

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

机译：日本患者疑似常染色体显性视神经萎缩的OPA1突变

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

To report three types of heterozygous mutations in the OPA1 gene in five patients from three families with autosomal dominant optic atrophy (ADOA, MIM#165500).

机译：要报告常染色体显性视神经萎缩症（ADOA，MIM＃165500）的三个家族的五名患者中OPA1基因的三种杂合突变。

著录项

来源
《Japanese Journal of Ophthalmology》 |2012年第1期|p.91-97|共7页
作者
Tetsuya Hamahata; Takuro Fujimaki; Keiko Fujiki; Ai Miyazaki; Atsushi Mizota; Akira Murakami;
展开▼
作者单位

Department of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan;

Department of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan;

Department of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan;

Department of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan;

Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan;

Department of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类
关键词
OPA1; Autosomal dominant optic atrophy; Mitochondria; Mutation;

机译：OPA1;常染色体显性视神经萎缩;线粒体;突变;

相似文献

外文文献
中文文献
专利

1. OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy [J] . HamahataT., FujimakiT., FujikiK., Japanese Journal of Ophthalmology . 2012,第1期

机译：怀疑患有常染色体显性视神经萎缩的日本患者中的OPA1突变
2. A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy [J] . Yuriko Ban, Yusuke Yoshida, Satoshi Kawasaki, Graefe's Archive for Clinical and Experimental Ophthalmology . 2007,第10期

机译：日本常染色体显性视神经萎缩患者OPA1基因的新型突变
3. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. [J] . Pesch UE, Leo-Kottler B, Mayer S, Human Molecular Genetics . 2001,第13期

机译：常染色体显性视神经萎缩患者的OPA1突变和半显性遗传的证据。
4. Detection and Segmentation of Kidneys from Magnetic Resonance Images in Patients with Autosomal Dominant Polycystic Kidney Disease [C] . Antonio Brunetti, Giacomo Donato Cascarano, Irio De Feudis, International conference on intelligent computing . 2019

机译：常染色体显性多囊性肾脏病患者的磁共振图像肾脏检测与分割
5. Apoptosis-Inducing Factor (AIF) forms a complex with Optic Atrophy 1 (Opa1) to maintain mitochondrial structure and function. [D] . Pilon-Larose, Karine. 2010

机译：凋亡诱导因子（AIF）与视神经萎缩1（Opa1）形成复合物，以维持线粒体的结构和功能。
6. Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort [O] . Akiko Maeda-Katahira, Natsuko Nakamura, Takaaki Hayashi, 2019

机译：在日本队列中常染色体显性遗传性视神经萎缩伴OPA1基因突变并伴有听觉神经病和其他系统性并发症
7. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance [O] . U. E.A. Pesch 2001

机译：术治疗患者的蛋白酶患者患者和半导体遗传的证据

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

摘要

著录项

相似文献

相关主题

期刊订阅