Peripherin-2 mutations identified by whole exome sequencing in clinically heterogeneous families with retinal pattern dystrophies

Villalonga Mercedes B.; Collins Giliann K.; Silver Rachel E.; Seddon Johanna M.

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Peripherin-2 mutations identified by whole exome sequencing in clinically heterogeneous families with retinal pattern dystrophies

机译：通过视网膜模式营养不良的临床异质家族中全外壳测序鉴定的外周-2突变

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《Investigative ophthalmology & visual science》 |2017年第8期|共2页
作者
Villalonga Mercedes B.; Collins Giliann K.; Silver Rachel E.; Seddon Johanna M.;
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作者单位

Tufts Med Ctr Ophthalm Epidemiol &

Genet Serv Boston MA USA;

Tufts Med Ctr Ophthalm Epidemiol &

Genet Serv Boston MA USA;

Tufts Med Ctr Ophthalm Epidemiol &

Genet Serv Boston MA USA;

Tufts Med Ctr Ophthalm Epidemiol &

Genet Serv Boston MA USA;

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正文语种 eng
中图分类眼科学;
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1. Peripherin-2 mutations identified by whole exome sequencing in clinically heterogeneous families with retinal pattern dystrophies [J] . Villalonga Mercedes B., Collins Giliann K., Silver Rachel E., Investigative ophthalmology & visual science . 2017,第8期

机译：通过视网膜模式营养不良的临床异质家族中全外壳测序鉴定的外周-2突变
2. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family [J] . lsabelle Audo, Kinga Bujakowska, Elise Orhan, Human Molecular Genetics . 2014,第2期

机译：家族性痴呆基因的再研究：全外显子测序揭示的错义突变将ITM2B识别为一个大家族中新型常染色体显性视网膜营养不良的候选基因
3. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. [J] . Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, Genetics in medicine . 2014,第9期

机译：血缘家族的血统指导突变分析和外显子组测序揭示了视网膜营养不良的异常临床和分子发现。
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. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Original article: Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly renal or retinal involvement [O] . Miriam Schmidts, Heleen H Arts, Ernie M H F Bongers, -1

机译：原始文章：外显子组测序确定DYNC2H1突变是窒息性胸肌营养不良（Jeune综合征）的常见原因而没有多指肾脏或视网膜的严重参与
7. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy [O] . Coppieters, Frauke, Depasse, Fanny, Casteels, Ingele, 2014

机译：血缘家庭的血统指导突变分析和外显子组测序揭示了视网膜营养不良的异常临床和分子发现

Peripherin-2 mutations identified by whole exome sequencing in clinically heterogeneous families with retinal pattern dystrophies

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