Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects

Chandra L. TuckerVisvanathan RamamurthyAna-Luisa PinaMagali LoyerSharola DharmarajYingying LiIrene H. MaumeneeJames B. HurleyRobert K. Koenekoop

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Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects

机译：Leber先天性黑ur病患者中鉴定的隐性隐性GUCY2D等位基因功能分析：蛋白质结构域比较和显性负作用

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《Molecular vision》 |2004年第2004期|共页
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Chandra L. TuckerVisvanathan RamamurthyAna-Luisa PinaMagali LoyerSharola DharmarajYingying LiIrene H. MaumeneeJames B. HurleyRobert K. Koenekoop;
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中图分类生物化学;
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1. Functional analyses of mutant recessive GUCY2D allelesidentified in Leber congenital amaurosis patients: protein domaincomparisons and dominant negative effects [J] . Molecular vision . 2004,第2004期

机译：Leber先天性黑ur症患者中隐性隐性GUCY2D等位基因突变的功能分析：蛋白结构域比较和显性负作用
2. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. [J] . Milam AH, Barakat MR, Gupta N, Ophthalmology . 2003,第3期

机译：突变型GUCY2D在Leber先天性黑蒙症中的临床病理作用。
3. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. [J] . Ugur Iseri SA, Durlu YK, Tolun A European journal of human genetics: EJHG . 2010,第10期

机译：一种新型的隐性GUCY2D突变，导致锥体棒型营养不良，而不是Leber先天性黑病。
4. Analyses of alternative splicing and deletion mutants identify an inhibitory domain in human transcription factor REL, an oncogenic member of the NF-kappaB family of proteins. [D] . Leeman, Joshua R. 2009

机译：选择性剪接和缺失突变体的分析确定了人类转录因子REL（NF-κB蛋白家族的致癌成员）中的抑制域。
5. A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Lebers congenital amaurosis [O] . Sibel A Ugur Iseri, Yusuf K Durlu, Aslihan Tolun 2010

机译：一种新颖的隐性GUCY2D突变导致锥体棒营养不良而不是Leber先天性黑病
6. A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis [O] . Ugur Iseri, Sibel A, Durlu, Yusuf K, Tolun, Aslihan 2010

机译：一种新颖的隐性GUCY2D突变，导致锥体棒营养不良，而不是Leber先天性黑病

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects

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