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Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

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单位: [1]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China [2]Cent Hosp Enshi Tujia & Miao Autonomous Prefectur, Dept Pediat, Enshi 445000, Hubei Province, Peoples R China [3]Huazhong Univ Sci & Technol,Tongji Med Coll,Dept Otolarygol,Tongji Hosp,Wuhan 430030,Peoples R China [4]Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China
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关键词: GJB6 gene del(GJB6-D13S1830) Non-syndromic hearing loss Chinese population

摘要:
Objective: To investigate the distribution of GJB6 mutations in Central Chinese population with nonsyndromic hearing loss. Method: Totally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region. Result: The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort. Conclusion: The results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

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出版当年[2011]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学 4 区 儿科
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学 4 区 儿科
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出版当年[2010]版:
Q3 PEDIATRICS Q3 OTORHINOLARYNGOLOGY
最新[2023]版:
Q3 OTORHINOLARYNGOLOGY Q3 PEDIATRICS

影响因子: 最新[2023版] 最新五年平均 出版当年[2010版] 出版当年五年平均 出版前一年[2009版] 出版后一年[2011版]

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第一作者单位: [2]Cent Hosp Enshi Tujia & Miao Autonomous Prefectur, Dept Pediat, Enshi 445000, Hubei Province, Peoples R China
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通讯机构: [1]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China [*1]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, 13 Hongkong Rd, Wuhan 430030, Peoples R China
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