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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90

机译：对一组Usher患者中USH1基因突变的频率进行的调查显示钙粘着蛋白23和原钙粘着蛋白15基因的重要性并建立了90％以上的检出率

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摘要

BackgroundUsher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction.

机译：背景乌舍氏综合症是一种毁灭性的隐性疾病，将听力损失与色素性视网膜炎相结合，在临床和遗传上都是异质的。 1型Usher综合征（USH1）是最严重的形式，其特征是先天性严重听力下降和前庭功能障碍。

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期刊名称 Journal of Medical Genetics
作者
A‐F Roux; V Faugère; S Le Guédard; N Pallares‐Ruiz; A Vielle; S Chambert; S Marlin; C Hamel; B Gilbert; S Malcolm; M Claustres;
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作者单位

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年(卷),期 2006(43),9
年度 2006
页码 763–768
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
关键词
usher syndrome MYO7A CDH23 PCDH15;

机译：迎来综合征;MYO7A;CDH23;PCDH15;

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专利

1. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. [J] . Roux AF, Faugere V, Le Guedard S, Journal of Medical Genetics . 2006,第9期

机译：对一组Usher患者中USH1基因突变的频率进行的调查显示，钙粘着蛋白23和原粘连蛋白15基因的重要性，发现检出率超过90％。
2. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. [J] . Zheng QY, Yan D, Ouyang XM, Human Molecular Genetics . 2005,第1期

机译：小鼠和人类中编码钙粘蛋白23和原钙粘蛋白15的基因突变引起的耳聋双基因遗传。
3. Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15. [J] . Lelli A, Kazmierczak P, Kawashima Y, The Journal of Neuroscience: The Official Journal of the Society for Neuroscience . 2010,第34期

机译：听觉毛细胞感觉传导的发展和再生需要钙粘蛋白23和原钙粘蛋白15之间的功能相互作用。
4. Diagnosis value of detection K-ras gene mutations in patients with gastric cancer [C] . Aimei Zhang, Rong Wang, Kun Sun, International Conference on Chemical, Material and Metallurgical Engineering . 2012

机译：胃癌患者检测K-RAS基因突变的诊断价值
5. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans [O] . Qing Yin Zheng, Denise Yan, Xiao Mei Ouyang, -1

机译：小鼠和人类中钙粘蛋白23和原钙粘蛋白15编码基因突变引起的耳聋双基因遗传
6. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% [O] . Roux, A‐F, Faugère, V, Guédard, S Le, 2006

机译：对一组Usher患者中USH1基因突变的频率进行的调查显示，钙粘着蛋白23和原钙粘着蛋白15基因的重要性，并建立了90％以上的检出率

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90

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