Mutations in the Membrane Component, Chromosome 1, Surface Marker 1 (M1S1) Gene in Gelatinous Drop-like Corneal Dystrophy

Akira Murakami; Shunsuke Kimura; Keiko Fujiki; Takuro Fujimaki; Atsushi Kanai

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Mutations in the Membrane Component, Chromosome 1, Surface Marker 1 (M1S1) Gene in Gelatinous Drop-like Corneal Dystrophy

机译：凝胶状滴样角膜营养不良的膜成分，染色体1，表面标记1（M1S1）基因中的突变。

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摘要

To report mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in two members of the same family who showed symptoms of gelatinous drop-like corneal dystrophy (GDLD).

机译：要报告同一个家族的两个成员的膜成分，1号染色体，表面标志物1（M1S1）基因的突变，这些基因显示出凝胶状滴状角膜营养不良（GDLD）的症状。

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来源
《Japanese Journal of Ophthalmology》 |2004年第4期|317-320|共4页
作者
Akira Murakami; Shunsuke Kimura; Keiko Fujiki; Takuro Fujimaki; Atsushi Kanai;
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作者单位

Department of Ophthalmology Juntendo University School of Medicine;

Tokyo University of Science Faculty of Industrial Science and Technology;

Department of Ophthalmology Juntendo University School of Medicine;

Department of Ophthalmology Juntendo University School of Medicine;

Department of Ophthalmology Juntendo University School of Medicine;

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正文语种 eng
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关键词
amyloid; gelatinous drop-like corneal dystrophy; M1S1 gene; mutations;

机译：淀粉样蛋白;凝胶样滴状角膜营养不良;M1S1基因;突变;

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专利

1. Mutations in the membrane component, chromosome 1, surface marker 1 (MIS]) gene in gelatinous drop-like corneal dystrophy [J] . Murakami A, Kimura S, Fujiki K, Japanese Journal of Ophthalmology . 2004,第4期

机译：凝胶状滴状角膜营养不良的膜成分，1号染色体，表面标志物1（MIS）基因突变
2. Gelatinous drop-like corneal dystrophy: mutation analysis of membrane component, chromosome 1, surface marker 1 [J] . Yajima T, Fujiki K, Murakami A, 日本眼科學會雜誌 . 2002,第5期

机译：凝胶状滴状角膜营养不良：膜成分，1号染色体，表面标记1突变分析
3. Gelatinous drop-like corneal dystrophy: mutation analysis of membrane component, chromosome 1, surface marker 1 [J] . Yajima T, Fujiki K, Murakami A, 日本眼科學會雜誌 . 2002,第5期

机译：凝胶状下落角膜营养不良：膜组分的突变分析，染色体1，表面标记1
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. Development of papaya chromosome-specific cytogenetic markers and cytogenetic map of papaya sex chromosomes [D] . Wai, Ching Man 2011

机译：木瓜染色体特异性细胞遗传标志物的开发及木瓜性染色体的细胞遗传图谱
6. Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD) [O] . Elham Alehabib, Javad Jamshidi, Hamid Ghaedi, 2017

机译：带有胶状滴样角膜营养不良症（GDLD）的家庭中的TACSTD2基因的新型突变。
7. Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. [O] . Tsujikawa, M, Kurahashi, H, Tanaka, T, 1998

机译：纯合性映射负责凝胶状滴状角膜营养不良的基因到染色体1p。
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）

Mutations in the Membrane Component, Chromosome 1, Surface Marker 1 (M1S1) Gene in Gelatinous Drop-like Corneal Dystrophy

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