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Polymorphic Variation of RPGRIP1L and IQCB1 as Modifiers of X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

机译：RPGRIP1L和IQCB1的多态性变异作为X型X型视网膜炎的改性剂由RPGR中的突变引起

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期刊名称 other
作者
Abigail T. Fahim; Sara J. Bowne; Lori S. Sullivan; Kaylie D. Webb; Jessica T. Williams; Dianna K. Wheaton; David G. Birch; Stephen P. Daiger;
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年(卷),期 -1(723),-1
年度 -1
页码 313–320
总页数 10
原文格式 PDF
正文语种
中图分类
关键词
Retinitis pigmentosa Retinal degeneration RPGR Genetic modifier Ciliopathy;

机译：色素性视网膜炎;视网膜变性;RPGR;遗传修饰剂;睫状体病变;

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专利

1. Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa [J] . Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan, Investigative ophthalmology & visual science . 2013,第2期

机译：X连锁视网膜色素变性视网膜蛋白基因RPGR和RP2的突变在8.5％的家庭中发现，并初步诊断为常染色体显性视网膜色素变性。
2. Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa [J] . Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan, Investigative ophthalmology & visual science . 2013,第2期

机译：X连锁视网膜色素变性视网膜蛋白基因RPGR和RP2的突变在8.5％的家庭中发现，并初步诊断为常染色体显性视网膜色素变性。
3. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa [J] . ChurchillJ.D., BowneS.J., SullivanL.S., Investigative ophthalmology & visual science . 2013,第2期

机译：X连锁性视网膜色素变性视网膜基因RPGR和RP2突变在8.5％的家庭中被初步诊断为常染色体显性遗传性视网膜色素变性
4. X-linked Dysgammaglobulinemia Caused by Hypomorphic XIAP Mutation [C] . Nishida N., Yang X., Kanegane H., European Society Immunodeficiencies., Meeting. . 2013

机译：X-Libented Dysgammaglobulinemia由雄性XIAP突变引起
5. Understanding the mechanism(s) of retinal degeneration in X-linked retinitis pigmentosa. [D] . Breuer, Debra Kay. 2002

机译：了解X连锁性视网膜色素变性视网膜变性的机制。
6. Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations [O] . Abigail T. Fahim, Sara J. Bowne, Lori S. Sullivan, 2008

机译：等位基因异质性和遗传修饰基因座有助于男性由于RPGR突变而导致X连锁性视网膜色素变性的临床变化。
7. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. [O] . Abigail T Fahim, Sara J Bowne, Lori S Sullivan, 2011

机译：由于RpGR突变，等位基因异质性和遗传修饰基因座导致具有X连锁视网膜色素变性的男性的临床变异。

Polymorphic Variation of RPGRIP1L and IQCB1 as Modifiers of X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

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