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Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

机译：全外显子测序揭示了脉络膜家族病中一个新的CHM基因突变，最初被诊断为色素性视网膜炎

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1. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa [J] . Hui Guo, Jisheng Li, Fei Gao, BMC Ophthalmology . 2015,第1期

机译：全外显子组测序揭示了脉络膜家族病中一个新的CHM基因突变，最初被诊断为色素性视网膜炎
2. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa [J] . LiShiqiang, GuanLiping, FangShaohua, International journal of molecular medicine . 2014,第2期

机译：外显子组测序显示最初被诊断为色素性视网膜色素变性的六个非典型脉络膜家族病的CHM突变
3. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa [J] . Li Shiqiang, Guan Liping, Fang Shaohua, International journal of molecular medicine . 2014,第2期

机译：外显子组测序显示最初被诊断为色素性视网膜色素变性的六个非典型脉络膜家族病的CHM突变
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
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. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa [O] . Hui Guo, Jisheng Li, Fei Gao, 2015

机译：全外显子测序揭示了脉络膜家族病中一个新的CHM基因突变最初被诊断为色素性视网膜炎
7. Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families [O] . 2019

机译：全末端测序鉴定了负责2个非通用中国家庭中的视网膜炎的基因中的新突变

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

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