Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

Aiping Huang; Yongyi Yuan; Naichao Duan; Xinxia Jiang; Baoshan Wang; Yanping Liu; Dongyang Kang; Xin Zhang; Qingwen Zhu; Pu Dai

首页> 外文期刊>International journal of pediatric otorhinolaryngology >Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

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Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

机译：听力损失与中国家庭的间隙连接β2（GJB2）基因中的异常突变组合相关。

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The GJB2 mutations account for a significant proportion of NSHL in affected individuals worldwide. Genetic and audiological data analysis of a Chinese family with NSHL revealed a novel c.35insG/c.232G>A compound heterozygous state. Our results highlight the complexity of the GJB2 genotypes and phenotypes.

机译：在全世界受影响的个体中，GJB2突变占NSHL的很大比例。一个中国家庭的非小细胞肺癌的遗传和听觉数据分析揭示了一种新型的c.35insG / c.232G> A复合杂合状态。我们的结果突出了GJB2基因型和表型的复杂性。

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《International journal of pediatric otorhinolaryngology》 |2014年第4期|共5页
作者
Aiping Huang; Yongyi Yuan; Naichao Duan; Xinxia Jiang; Baoshan Wang; Yanping Liu; Dongyang Kang; Xin Zhang; Qingwen Zhu; Pu Dai;
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中图分类耳鼻咽喉科学;
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1. Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family. [J] . Aiping Huang, Yongyi Yuan, Naichao Duan, International journal of pediatric otorhinolaryngology . 2014,第4期

机译：听力损失与中国家庭的间隙连接β2（GJB2）基因中的异常突变组合相关。
2. Association between mutations in the gap junction beta 4 gene and nonsyndromic hearing loss: Genotype-phenotype correlation patterns [J] . Li Tung-Cheng, Wang Wen-Hung, Li Chuan, Molecular medicine reports . 2015,第1期

机译：间隙连接β4基因突变与非综合征性听力损失之间的关联：基因型-表型相关模式。
3. Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography. [J] . Aishah ZS, Khairi MD, Normastura AR, The Journal of laryngology and otology. . 2008,第12期

机译：使用变性高效液相色谱法筛选具有常染色体隐性，非综合征性听力损失的马来人的间隙连接蛋白β-2基因突变。
4. Functional consequences of missense mutation in the GJB2 gene associated with non-synclromic hearing loss [C] . Lee Kyu Yup, Choi Soo-Young, Lin Xi, Asia Pacific Symposium on Cochlear Implant and Related SciencesAsia Pacific Symposium on Cochlear Implant and Related Sciences . 2009

机译：与非辛瘤性听力损失相关的GJB2基因畸形突变的功能后果
5. Characterization of gap junctional channels of lens connexin 50 and its mutations in heterologous expression systems. [D] . Xu, Xiaorong. 2000

机译：晶状体连接蛋白50的间隙连接通道及其异源表达系统中的突变的表征。
6. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). [O] . N J Lench, A F Markham, R F Mueller, 1998

机译：摩洛哥家庭由间隙连接蛋白基因连接蛋白26（GJB2）突变引起常染色体隐性隐性感觉神经性听力丧失。
7. Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran [O] . Masoud Akbarzadeh Laleh, Marzieh Naseri, Ali Akbar Poursadegh Zonouzi, 2017

机译：在伊朗Hormozgan的常染色体隐性遗传性非综合征性听力损失患者中间隙连接β-2和间隙连接β-4基因突变以及DFNB21，DFNB24，DFNB29和DFNB42位点缺乏贡献的不同模式

Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

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