Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.-论文-万方医学网

第一作者： Avigail,Beryozkin

第一单位： Departments of Ophthalmology Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

作者： Avigail,Beryozkin ^[1] ; Gal,Levy ^[1] ; Anat,Blumenfeld ^[1] ; Segev,Meyer ^[1] ; Prasanthi,Namburi ^[1] ; Yair,Morad ^[2] ; Libe,Gradstein ^[3] ; Anand,Swaroop ^[4] ; Eyal,Banin ^[1] ; Dror,Sharon ^[1]

作者单位： Departments of Ophthalmology Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[1] Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel. ^[2] Department of Ophthalmology, Clalit Health Services and Soroka University Medical Center, Beer-Sheva, Israel. ^[3] Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States. ^[4]

医学主题词青少年(Adolescent);成年人(Adult);儿童(Child);DNA(DNA);DNA突变分析(DNA Mutational Analysis);外显子(Exons);家庭(Family);女(雌)性(Female);基因, 显性(Genes, Dominant);基因检测(Genetic Testing);人类(Humans);以色列(Israel);男(雄)性(Male);镶嵌现象(Mosaicism);突变(Mutation);系谱(Pedigree);聚合酶链反应(Polymerase Chain Reaction);患病率(Prevalence);参考值(Reference Values);色素性视网膜炎(Retinitis Pigmentosa);视紫质(Rhodopsin);青年人(Young Adult)

DOI 10.1167/iovs.15-18702

PMID 26962691

发布时间 2021-12-03

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Investigative ophthalmology & visual science

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

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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