论文期刊

取消

高级检索

检索历史清除

首页> The Annals of otology, rhinology, and laryngology> Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

导出 LinkOut

翻译打印收藏纠错

作者： Yoh-Ichiro,Iwasa ^[1] ; Hideaki,Moteki ^[2] ; Mitsuru,Hattori ^[1] ; Ririko,Sato ^[1] ; Shin-Ya,Nishio ^[2] ; Yutaka,Takumi ^[2] ; Shin-Ichi,Usami ^[3]

作者单位： Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan. ^[1] Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan. ^[2] Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp. ^[3]

关键词 COL11A2 Stickler syndrome autosomal dominant genetics hearing loss massively parallel sequencing

主题词关节炎(Arthritis);儿童(Child);胶原病(Collagen Diseases);胶原Ⅺ型(Collagen Type XI);结缔组织疾病(Connective Tissue Diseases);女(雌)性(Female);移码突变(Frameshift Mutation);听觉丧失(Hearing Loss);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);突变, 误义(Mutation, Missense);系谱(Pedigree);表型(Phenotype);视网膜脱离(Retinal Detachment)

DOI 10.1177/0003489415575044

PMID 25780254

发布时间 2015-11-19

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览56

The Annals of otology, rhinology, and laryngology

2015年124 Suppl 1卷

111S-7S页

相似文献

中文期刊
外文期刊
学位论文
会议论文

特别提示：本网站仅提供医学学术资源服务，不销售任何药品和器械，有关药品和器械的销售信息，请查阅其他网站。

客服热线：4000-115-888 转3 (周一至周五：8:00至17:00)
|
客服邮箱：yiyao@wanfangdata.com.cn

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

官方微信

万方医学小程序

关于我们网站地图知识产权

北京万方数据股份有限公司

万方数据电子出版社

京ICP证010071号

京公网安备11010802020237号

京ICP备08100800号-1

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

new翻译充值订阅收藏移动端

官方微信

万方医学小程序

调查问卷