Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

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作者： Paola,Benaglio ^[1] ; Patricia Fernandez,San Jose ^[2] ; Almudena,Avila-Fernandez ^[2] ; Giulia,Ascari ^[1] ; Shyana,Harper ^[3] ; Gaël,Manes ^[4] ; Carmen,Ayuso ^[2] ; Christian,Hamel ^[4] ; Eliot L,Berson ^[3] ; Carlo,Rivolta ^[1]

作者单位： Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland. ^[1] Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. ^[2] The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA. ^[3] INSERM U1051, Institut des Neurosciences de Montpellier, Hôpital Saint Eloi, Montpellier, France. ^[4]

主题词 DNA突变分析(DNA Mutational Analysis);基因, 显性(Genes, Dominant);基因检测(Genetic Testing);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);开放读码框架(Open Reading Frames);肽延伸因子(Peptide Elongation Factors);RNA剪接(RNA Splicing);色素性视网膜炎(Retinitis Pigmentosa);核糖核蛋白, U4-U6小核(Ribonucleoprotein, U4-U6 Small Nuclear);核糖核蛋白, U5小核(Ribonucleoprotein, U5 Small Nuclear);核糖核蛋白类, 小核(Ribonucleoproteins, Small Nuclear)

PMID 24959063

发布时间 2021-10-21

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Molecular vision

2014年20卷

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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Molecular vision

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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Molecular vision

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Molecular vision

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