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C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

机译：C2orf71突变是常染色体隐性视网膜色素变性的常见原因：8个新型突变的临床分析和介绍

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Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang;
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1. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations [J] . Christina Gerth-Kahlert, Amit Tiwari, James V. M. Hanson, Investigative ophthalmology & visual science . 2017,第10期

机译：C2orf71突变是常染色体隐性遗传性视网膜色素变性的常见原因：8个新突变的临床分析和介绍
2. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations [J] . Gerth-Kahlert Christina, Tiwari Amit, Hanson James V. M., Investigative ophthalmology & visual science . 2017,第10期

机译：C2ORF71突变作为常血糖隐性视网膜炎的常见原因：8个新突变的临床分析和呈递
3. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. [J] . Collin RW, Safieh C, Littink KW, The American Journal of Human Genetics . 2010,第5期

机译：C2ORF71中的突变导致常染色体隐性色素性视网膜炎。
4. PAS-MUT with Somatic Mutations in Cancer and Classified Diseases for Clinical-Genomics Research: PAS-MUT Somatic Mutations [C] . Saman Zeeshan, Zeeshan Ahmed IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：具有癌症和分类疾病中的体细胞突变的PAS-MUT用于临床基因组学研究：PAS-MUT和体细胞突变
5. Investigating the pathogenicity of mutations in two ubiquitously expressed housekeeping genes that cause autosomal dominant retinitis pigmentosa. [D] . Spellicy, Catherine Jean. 2009

机译：调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
6. Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa [O] . Rob W.J. Collin, Christine Safieh, Karin W. Littink, 2010

机译：C2ORF71中的突变导致常染色体隐性视网膜炎色素沉着
7. Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa [O] . Collin, Rob W.J., Safieh, Christine, Littink, Karin W., 2010

机译：C2ORF71中的突变导致常染色体隐性视网膜炎色素沉着

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

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