A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene

Jianmin Si3; Lei Guo1 3; Lili Chen; Ming Qi; Ping Yu; Xiaoyi Yan; Yangshun Gu; Yuehong Yang; Zhen Ge

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A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene

机译：中国晶状体角膜营养不良和TGFBI（BIGH3）基因新Thr538Pro突变的中国患者的临床和分子遗传学分析

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来源
《Journal of genetics》 |2006年第1期|共页
作者
Jianmin Si3; Lei Guo1 3; Lili Chen; Ming Qi; Ping Yu; Xiaoyi Yan; Yangshun Gu; Yuehong Yang; Zhen Ge;
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中图分类遗传学;
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1. A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in theTGFBI (BIGH3) gene [J] . Ping Yu, Yangshun Gu, Yuehong Yang, Journal of Genetics . 2006,第1期

机译：中国晶状体角膜营养不良和TGFBI（BIGH3）基因新Thr538Pro突变的中国患者的临床和分子遗传学分析
2. Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3) [J] . Pablo RomeroMauricio MoragaLuisa Herrera Molecular vision . 2010,第2010期

机译：TGFBI（BIGH3）的417C> T（R124C）和1762A> G（H572R）突变的患者的I型角膜营养不良的不同表型
3. Different phenotypes of lattice corneal dystrophy type I in patients with 417CT (R124C) and 1762AG (H572R) mutations in TGFBI (BIGH3) [J] . Herrera Luisa, Moraga Mauricio, Romero Pablo Molecular vision . 2010,第2010期

机译：TGFBI（BIGH3）的417C> T（R124C）和1762A> G（H572R）突变的患者的I型角膜营养不良的不同表型
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. Clinical implications of mutations in thep53 tumor suppressor gene in female patients with breast cancer. [D] . Lai, Hong Chen. 2002

机译：女性乳腺癌女性患者p53抑癌基因突变的临床意义。
6. Different phenotypes of lattice corneal dystrophy type I in patients with 417CT (R124C) and 1762AG (H572R) mutations in TGFBI (BIGH3) [O] . Pablo Romero, Mauricio Moraga, Luisa Herrera 2010

机译：TGFBI（BIGH3）的417C T（R124C）和1762A G（H572R）突变的患者的I型角膜营养不良的不同表型
7. H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people [O] . Chau, H M, Ha, N T, Cung, L X, 2003

机译：TGFBI（BIGH3）基因的H626R和R124C突变导致越南人晶状体角膜营养不良

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene

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