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A novel deletion involving the connexin-30 gene del(GJB6-d13s1854) found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

机译：在患有DFNB1非综合征性听力障碍的受试者的GJB2基因（connexin-26）的反式中发现了一种涉及连接蛋白30基因del（GJB6-d13s1854）的新型缺失

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期刊名称 Journal of Medical Genetics
作者
F J del Castillo; M Rodriguez-Ballest...; A Alvarez; T Hutchin; E Leonardi; C A de Oliveira; H Azaiez; Z Brownstein; M Avenarius; S Marlin; A Pandya; H Shahin; K Siemering; D Weil; W Wuyts; L Aguirre; Y Martin; M Moreno-Pelayo; M Villamar; K Avraham; H Dahl; M Kanaan; W Nance; C Petit; R Smith; G Van Camp; E Sartorato; A Murgia; F Moreno; I del Castillo;
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年(卷),期 2005(42),7
年度 2005
页码 588–594
总页数 7
原文格式 PDF
正文语种
中图分类遗传学;
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专利

1. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. [J] . Batissoco AC, Abreu-Silva RS, Braga MC, Ear and hearing. . 2009,第1期

机译：300例巴西听力障碍患者的GJB2（连接蛋白26）和GJB6（连接蛋白30）突变的患病率：对诊断和遗传咨询的意义。
2. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. [J] . Alvarez A, del Castillo I, Villamar M, American journal of medical genetics, Part A . 2005,第3期

机译：W24X突变普遍存在于西班牙罗曼语（吉普赛人）的连接蛋白-26（GJB2）编码基因中，具有常染色体隐性非综合征性听力损失。
3. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: Simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. [J] . Esmaeili M, Bonyadi M, Nejadkazem M International journal of pediatric otorhinolaryngology . 2007,第6期

机译：来自伊朗的常染色体隐性非综合征性听力损失患病家庭中GJB2和GJB6基因的常见突变分析：同时检测DFNB1相关性耳聋中的两个常见突变（35delG / del（GJB6-D13S1830））。
4. AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment [C] . Taylor Kyle R., DeLuca Adam P., Goodman Corey W., 2011 9th IEEE/ACS International Conference on Computer Systems and Applications . 2011

机译：AudioGene：基于计算机的非综合征性听力障碍涉及的遗传因素预测
5. The role of mitochondrial DNA deletion mutations in the pathogenesis of aging: Studies in rodent heart and skeletal muscle. [D] . Wanagat, Jonathan. 2000

机译：线粒体DNA缺失突变在衰老发病机理中的作用：啮齿动物心脏和骨骼肌的研究。
6. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions [O] . Elena A Bliznetz, Maria R Lalayants, Tatiana G Markova, -1

机译：俄罗斯GJB2 / DFNB1突变谱的更新：创始人Ingush突变del（GJB2-D13S175）是其他大型缺失中最常见的突变
7. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment [O] . del Castillo, F J, Rodriguez-Ballest..., M, Alvarez, A, 2005

机译：在患有DFNB1非综合征性听力障碍的受试者的GJB2基因（connexin-26）的反式中发现了一种涉及连接蛋白30基因del（GJB6-d13s1854）的新型缺失

A novel deletion involving the connexin-30 gene del(GJB6-d13s1854) found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

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