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Connexin-26 mutations in sporadic non-syndromal sensorineural deafness.

作者信息

Lench N, Houseman M, Newton V, Van Camp G, Mueller R

出版信息

Lancet. 1998 Feb 7;351(9100):415. doi: 10.1016/s0140-6736(98)24006-2.

DOI:10.1016/s0140-6736(98)24006-2
PMID:9482297
Abstract
摘要

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Connexin-26 mutations in sporadic non-syndromal sensorineural deafness.散发性非综合征性感音神经性聋中的连接蛋白26突变
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Connexin 26 gene mutation and autosomal recessive deafness.连接蛋白26基因突变与常染色体隐性遗传性耳聋
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引用本文的文献

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Molecular alteration in the Gap Junction Beta 2 () gene associated with non-syndromic sensorineural hearing impairment.与非综合征性感音神经性听力损失相关的缝隙连接蛋白β2()基因的分子改变。
Intractable Rare Dis Res. 2021 Feb;10(1):31-36. doi: 10.5582/irdr.2020.03157.
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Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.中国云南少数民族和汉族非综合征性耳聋患者的基因突变
J Transl Med. 2013 Dec 17;11:312. doi: 10.1186/1479-5876-11-312.
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The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.
未来通过基因筛查检测新生儿是否有儿童期听力损失风险的作用。
Int J Audiol. 2013 Feb;52(2):124-33. doi: 10.3109/14992027.2012.733424. Epub 2012 Nov 7.
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The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.连接蛋白在耳和皮肤生理学中的作用——疾病相关突变的功能见解
Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13.
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Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.常见的分子病因在非综合征型藏族听力障碍患者中较为罕见。
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