A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

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A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

机译：中国汉族耳聋患者无综合征前庭导水管但无双等位基因SLC26A4突变，其基因组缺失通常为7666 bp

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摘要

Objectives: To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations.

机译：目的：探讨非综合征性前庭渡槽（EVA）但无双等位基因SLC26A4突变的患者的遗传原因。

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《International journal of pediatric otorhinolaryngology》 |2015年第12期|共5页
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中图分类耳鼻咽喉科学;
关键词
SLC26A4; Genomic deletion; Non-syndromic hearing loss; Enlarged vestibular aqueduct;

机译：SLC26A4;基因组缺失;非综合征性听力损失;前庭导水管增大;

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专利

1. 135例大前庭导水管耳聋患者SLC26A4基因突变分析 [J] . 于晓宇, 林妘, 许军, 中华耳科学杂志（英文版） . 2018,第002期
2. A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations [J] . International journal of pediatric otorhinolaryngology . 2015,第12期

机译：中国汉族耳聋患者无综合征前庭导水管但无双等位基因SLC26A4突变，其基因组缺失通常为7666 bp
3. A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct [J] . Liang Yuan, Peng Qi, Wang Kangwei, International journal of pediatric otorhinolaryngology . 2018,第期

机译：非综合征听力损失和扩大前庭渡槽的中国家庭SLC26A4基因的一种新突变
4. Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct [J] . Wang Mingming, Zhang Fengguo, Xu Lei, International journal of pediatric otorhinolaryngology . 2016,第Null期

机译：前庭导水管增大的中国汉族人群SLC26A4基因的新型复合杂合突变
5. SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct [O] . Jiandong Zhao, Yongyi Yuan, Jing Chen, 2012

机译：中国非综合征型前庭大水管患者SLC26A4基因拷贝数变异
6. SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct [O] . Jiandong Zhao, Yongyi Yuan, Jing Chen, 2012

机译：中国非综合征型前庭大水管患者SLC26A4基因拷贝数变异

A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

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