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Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family

  • 【作者】Fangzhu Lin,Dejun Li,Ping Wang,Dongyan Fan,Ji De,Wei Zhu
  • 【DOI】10.1016/j.ijporl.2014.10.016
  • 【作者单位】a Department of Otolaryngology-Head and Neck Surgery, First Hospital of Jilin University, Changchun 130021, China b Center for Prenatal Diagnosis, First Hospital of Jilin University, Changchun 130021, China c School of Medicine, Tibet University, Lhasa 850000, China
  • 【年份】2014
  • 【卷号】Vol.78 No.12
  • 【页码】2216-2221
  • 【ISSN】0165-5876
  • 【关键词】TMC1 Non-syndromic hearing loss ARNSHL Tibetan Chinese 
  • 【摘要】 Objectives Hearing loss is the most common sensory disorder worldwide. Biallelic mutations in 42 different genes have been identified as associated with autosomal recessive non-syndromic hearing loss (ARNSHL). One of the common genes responsible for...
  • 【文献类型】 期刊
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