对一个患有早发性富克斯内皮性角膜营养不良的澳大利亚家族进行COL8A2基因筛查。 - Suppr

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超能文献

Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.

作者信息

Kuot Abraham, Mills Richard, Craig Jamie E, Sharma Shiwani, Burdon Kathryn P

机构信息

Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.

出版信息

Clin Exp Ophthalmol. 2014 Mar;42(2):198-200. doi: 10.1111/ceo.12122. Epub 2013 May 22.

DOI:10.1111/ceo.12122

PMID:23601356

Abstract

摘要

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Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.对一个患有早发性富克斯内皮性角膜营养不良的澳大利亚家族进行COL8A2基因筛查。

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Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.排除编码VIII型胶原α2链的COL8A1基因作为富克斯内皮营养不良和后极性多形性角膜营养不良的候选基因。

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and Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy.希腊迟发性富克斯角膜内皮营养不良人群中的基因多态性筛查

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Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.迟发性富克斯角膜营养不良多代家系中SLC4A11、ZEB1、LOXHD1、COL8A2和TCF4基因序列分析

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