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[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region].

作者信息

Khidiiatova I M, Dzhemileva L U, Khabibulin R M, Khusnutdinova E K

机构信息

Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054 Russia.

出版信息

Mol Biol (Mosk). 2002 May-Jun;36(3):438-41.

PMID:12068628
Abstract
摘要

相似文献

1
[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region].[巴什基尔斯坦非综合征性常染色体隐性耳聋患者及伏尔加-乌拉尔地区民族群体中连接蛋白26基因(GJB2)35delG突变的频率]
Mol Biol (Mosk). 2002 May-Jun;36(3):438-41.
2
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GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.摩洛哥常染色体隐性非综合征性听力损失患者的GJB2(连接蛋白26)基因突变及常见GJB2-35delG突变的携带频率
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Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.欧亚人群中 GJB2 基因突变 c.35delG、c.235delC 和 c.167delT 的携带频率。
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Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.
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A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?隐性非综合征性耳聋中一个包含大部分GJB6基因的大片段缺失:双基因效应?
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Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.俄罗斯与听力损失相关的c.35delG(GJB2)的更新携带率以及西伯利亚常见的c.35delG单倍型。
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引用本文的文献

1
Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.俄罗斯与听力损失相关的c.35delG(GJB2)的更新携带率以及西伯利亚常见的c.35delG单倍型。
BMC Med Genet. 2018 Aug 7;19(1):138. doi: 10.1186/s12881-018-0650-5.
2
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.靶向大规模平行测序:有效检测与小家族性耳聋相关的新型致病突变。
Orphanet J Rare Dis. 2012 Sep 3;7:60. doi: 10.1186/1750-1172-7-60.
3
Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia.
俄罗斯伏尔加-乌拉尔人群中 GJB2 (Cx26) 基因 c.35delG 突变相关的单体型多样性和祖先单体型重建。
Acta Naturae. 2011 Jul;3(3):52-63.
4
First molecular screening of deafness in the Altai Republic population.阿尔泰共和国人群耳聋的首次分子筛查。
BMC Med Genet. 2005 Mar 24;6:12. doi: 10.1186/1471-2350-6-12.