Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Retinitis Pigmentosa and PRPF8[original query] |
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Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61. Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen |
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Molecular vision 2013 19 654-64. de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu |
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. Scientific reports 2017 Jan 7 39652. Ezquerra-Inchausti Maitane, Barandika Olatz, Anasagasti Ander, Irigoyen Cristina, López de Munain Adolfo, Ruiz-Ederra Javi |
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PloS one 2017 1 12 (1): e0170038. Van Cauwenbergh Caroline, Coppieters Frauke, Roels Dimitri, De Jaegere Sarah, Flipts Helena, De Zaeytijd Julie, Walraedt Sophie, Claes Charlotte, Fransen Erik, Van Camp Guy, Depasse Fanny, Casteels Ingele, de Ravel Thomy, Leroy Bart P, De Baere Elfri |
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa. Frontiers in cell and developmental biology 2021 2 8 629994. Xiao Ting, Xie Yue, Zhang Xin, Xu Ke, Zhang Xiaohui, Jin Zi-Bing, Li Ya |
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- Page last updated:Apr 22, 2024
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