Novel Mutation (V505D) of the TGFBI Gene Found in A Chinese Family with Lattice Corneal Dystrophy, Type I

Xin Tian; Keiko Fujiki; Wei Wang; Akira Murakami; Peiying Xie; Atsushi Kanai; Zuguo Liu

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Novel Mutation (V505D) of the TGFBI Gene Found in A Chinese Family with Lattice Corneal Dystrophy, Type I

机译：TGFBI基因的新型突变（V505D）在中国家庭格型角膜营养不良I型中发现

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摘要

To report a novel V505D mutation of the human transforming growth factor beta-induced (TGFBI) gene found in a Chinese family with lattice corneal dystrophy, type I (LCDI).

机译：为了报道在中国患有晶格型角膜营养不良的I型（LCDI）家庭中发现的人类转化生长因子β诱导（TGFBI）基因的新型V505D突变。

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来源
《Japanese Journal of Ophthalmology》 |2005年第2期|84-88|共5页
作者
Xin Tian; Keiko Fujiki; Wei Wang; Akira Murakami; Peiying Xie; Atsushi Kanai; Zuguo Liu;
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作者单位

Department of Ophthalmology Third Hospital Peking University;

Department of Ophthalmology Juntendo University School of Medicine;

Department of Ophthalmology Third Hospital Peking University;

Department of Ophthalmology Juntendo University School of Medicine;

Peking University Optometry and Ophthalmology Center;

Department of Ophthalmology Juntendo University School of MedicineDepartment of Ophthalmology Juntendo Tokyo Koto Geriatric Medical Center;

Department of Ophthalmology Third Hospital Peking UniversityZhongshan Ophthalmic Center Ocular Surface Center Sun Yat-sen University;

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原文格式 PDF
正文语种 eng
中图分类
关键词
gene; human transforming growth factor beta-induced; lattice corneal dystrophy type I; missense mutation; V505D mutation;

机译：基因;人转化生长因子β诱导;I型晶状体角膜营养不良;缺失突变;V505D突变;

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专利

1. Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. [J] . Tian X, Fujiki K, Wang W, Japanese Journal of Ophthalmology . 2005,第2期

机译：TGFBI基因的新型突变（V505D）在患有晶格型角膜营养不良的中国家庭（I型）中发现。
2. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families [J] . Zhe LiuYi-qiang WangQing-hua GongLi-xin Xie Molecular vision . 2008,第2008期

机译：TGFBI中的R124C突变导致三个中国家庭的I型晶状体角膜营养不良
3. p.Ala546 > Asp and p.Arg555>Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I [J] . Ping Yu, Yangshun Gu, Fan Jin, Genetic Testing . 2008,第3期

机译：p.Ala546> Asp和p.Arg555>两个中国大型I型角膜营养不良家庭的TGFBI基因Trp突变及其临床表现
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. Mutational analysis of the DNA helicase genes XPB, XPD, WRN and BLM in tumors with wild type p53 but deficient in p53 mediated apoptosis [D] . Gerrard, Bernard Charles. 2000

机译：野生型p53但缺乏p53介导的细胞凋亡的肿瘤中DNA解旋酶基因XPB，XPD，WRN和BLM的突变分析
6. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families [O] . Zhe Liu, Yi-qiang Wang, Qing-hua Gong, 2008

机译：TGFBI中的R124C突变导致三个中国家庭的I型晶状体角膜营养不良
7. Arg555Gln Mutation of TGFBI Gene in Geographical-Type Reis—Bücklers Corneal Dystrophy in a Chinese Family [O] . Mz Piao, Xt Zhou, Lc Wu, 2012

机译：中国家庭地理型REIS-BÜCKLES角膜营养不良中TGFBI基因的ARG555GLN突变
8. Crystalline Retinopathy (Bietti's Tapetoretinal Degeneration without Marginal Corneal Dystrophy) [R] . Mauldin, W. M., O'Connor, P. S. 1981

机译：结晶性视网膜病变（Bietti的Tapetoretinal变性没有边缘角膜营养不良）

Novel Mutation (V505D) of the TGFBI Gene Found in A Chinese Family with Lattice Corneal Dystrophy, Type I

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