A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer

Catherine E. WheeldonBetina H. de KarolyiDipika V. PatelTrevor SherwinCharles N.J. McGheeAndrea L. Vincent

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A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer

机译：与鲍曼层独特的角膜营养不良的家系中的TGFBI外显子14突变具有新颖的表型-基因型关系

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《Molecular vision》 |2008年第2008期|共页
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Catherine E. WheeldonBetina H. de KarolyiDipika V. PatelTrevor SherwinCharles N.J. McGheeAndrea L. Vincent;
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中图分类生物化学;
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入库时间 2022-08-18 11:46:18

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1. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer [J] . de Karolyi Betina H., McGhee Charles N.J., Patel Dipika V., Molecular vision . 2008,第2008期

机译：与鲍曼层独特的角膜营养不良的家系中的TGFBI外显子14突变具有新颖的表型-基因型关系
2. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. [J] . Aldave AJ, Rayner SA, King JA, Ophthalmology . 2005,第6期

机译：鲍曼氏层和间质的独特角膜营养不良与转化生长因子β诱导（TGFBI）基因中的Gly623Asp突变有关。
3. A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree [J] . Yinhui Yu, Peijin Qiu, Yanan Zhu, BMC Ophthalmology . 2015,第1期

机译：中国谱系Thiel-Behnke角膜营养不良患者中TGFBI基因Arg555Trp突变的新型表型-基因型相关性
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. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer [O] . Catherine E. Wheeldon, Betina H. de Karolyi, Dipika V. Patel, 2008

机译：与鲍曼层独特的角膜营养不良的家系中的TGFBI外显子14突变具有新颖的表型-基因型关系
6. A novel phenotype-genotype correlation with an Arg555Trp mutation of gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree [O] . 2015

机译：中国谱系Thiel-Behnke角膜营养不良与基因Arg555Trp基因突变的新型表型-基因型相关性

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer

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