Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.-论文-万方医学网

第一作者： Christina,Gerth-Kahlert

第一单位： Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.

作者： Christina,Gerth-Kahlert ^[1] ; Samuel,Koller ^[2] ; James V M,Hanson ^[1] ; Luzy,Baehr ^[2] ; Amit,Tiwari ^[2] ; Fatma,Kivrak-Pfiffner ^[2] ; Angela,Bahr ^[2] ; Wolfgang,Berger ^[3]

作者单位： Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland. ^[1] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. ^[2] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.;Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.;Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland. ^[3]

医学主题词成年人(Adult);老年人(Aged);儿童(Child);视网膜电描记术(Electroretinography);女(雌)性(Female);基因, 显性(Genes, Dominant);基因, 隐性(Genes, Recessive);遗传关联研究(Genetic Association Studies);人类(Humans);男(雄)性(Male);中年人(Middle Aged);分子诊断技术(Molecular Diagnostic Techniques);突变, 误义(Mutation, Missense);视网膜(Retina);色素性视网膜炎(Retinitis Pigmentosa);回顾性研究(Retrospective Studies);核糖核蛋白类, 小核(Ribonucleoproteins, Small Nuclear);体层摄影术, 光学相干(Tomography, Optical Coherence);视敏度(Visual Acuity);视野(Visual Fields)

DOI 10.1167/iovs.18-25643

PMID 31260034

发布时间 2022-12-07

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Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Investigative ophthalmology & visual science

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Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Investigative ophthalmology & visual science

相似文献

同项目论文

Investigative ophthalmology & visual science

相关期刊

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