Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree

Gustafson Kevin; Duncan Jacque L.; Biswas Pooja; Matsui Hiroko; Soto-Hermida Angel; Suk John; Telenti Amalio; Frazer Kelly A.; Ayyagari Radha

首页> 外文期刊>Investigative ophthalmology & visual science >Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree

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Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree

机译：全基因组测序显示了两个独立基因的突变，作为阿什妥妥犹太血统的视网膜退化（RD）的潜在原因

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来源
《Investigative ophthalmology & visual science》 |2017年第8期|共3页
作者
Gustafson Kevin; Duncan Jacque L.; Biswas Pooja; Matsui Hiroko; Soto-Hermida Angel; Suk John; Telenti Amalio; Frazer Kelly A.; Ayyagari Radha;
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作者单位

Univ Calif San Francisco Ophthalmol San Francisco CA 94143 USA;

Univ Calif San Francisco Ophthalmol San Francisco CA 94143 USA;

Univ Calif San Diego Shiley Eye Inst La Jolla CA 92093 USA;

Univ Calif San Diego Inst Genom Med La Jolla CA 92093 USA;

Univ Calif San Diego Shiley Eye Inst La Jolla CA 92093 USA;

Univ Calif San Diego Shiley Eye Inst La Jolla CA 92093 USA;

Human Longev Inc San Diego CA USA;

Univ Calif San Diego Inst Genom Med La Jolla CA 92093 USA;

Univ Calif San Diego Shiley Eye Inst La Jolla CA 92093 USA;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
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1. Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree [J] . Gustafson Kevin, Duncan Jacque L., Biswas Pooja, Investigative ophthalmology & visual science . 2017,第8期

机译：全基因组测序显示了两个独立基因的突变，作为阿什妥妥犹太血统的视网膜退化（RD）的潜在原因
2. Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree [J] . Gustafson Kevin, Duncan Jacque L., Biswas Pooja, Investigative ophthalmology & visual science . 2017,第8期

机译：全基因组测序显示了两个独立基因的突变，作为阿什妥妥犹太血统的视网膜退化（RD）的潜在原因
3. Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree [J] . Kevin Gustafson, Jacque L. Duncan, Pooja Biswas, Genes . 2017,第9期

机译：全基因组测序显示了两个独立基因中的突变，作为阿什妥妥犹太血统中视网膜变性的潜在原因
4. Deep Sequencing of Rapid Autopsy Tumors and Models Reveals Possible Driver Mutations Underlying Tumor Progression [C] . Tao Xie International Molecular Medicine Tri-Conference. . 2015

机译：快速尸检肿瘤和模型的深度测序显示出肿瘤进展的可能驾驶员突变
5. Segregation analyses in Ashkenazi Jewish families: Evidence of an additional breast cancer susceptibility gene, and evaluation of cancer risks in BRCA1/2 mutation carriers. [D] . Kaufman, David J. 2002

机译：阿什肯纳兹犹太人家庭的隔离分析：另一个乳腺癌易感基因的证据，以及BRCA1 / 2突变携带者的癌症风险评估。
6. Correction: Gustafson et al. Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017 8 210 [O] . Kevin Gustafson, Jacque L. Duncan, Pooja Biswas, 2017

机译：更正：Gustafson等人全基因组测序揭示了两个独立基因的突变这是Ashkenazi犹太谱系中视网膜变性的根本原因。基因20178210
7. Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210 [O] . Kevin Gustafson, Jacque L. Duncan, Pooja Biswas, 2017

机译：更正：Gustafson等，全基因组测序揭示两个独立基因的突变作为德系犹太家谱中视网膜变性的潜在原因。基因2017,8,210

Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree

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