首页> 外文期刊>European journal of human genetics: EJHG >DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.
【24h】

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.

机译:DFNB39是一种隐性形式的感觉神经性听力障碍,可映射到7q11.22-q21.12染色体。

获取原文
获取原文并翻译 | 示例
           

摘要

This article describes the identification of a novel locus (DFNB39) responsible for an autosomal recessive form of hearing loss segregating in a Pakistani consanguineous family. The hearing impaired members of this family present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 7q with a maximum multipoint lod score of 3.8. The region of homozygosity spans a 19 cM region that is bounded by markers D7S3046 and D7S644.European Journal of Human Genetics (2003) 11, 812-815. doi:10.1038/sj.ejhg.5201041
机译:本文介绍了一个新的基因座(DFNB39)的鉴定,该基因座是巴基斯坦近亲家庭中常染色体隐性遗传的听力损失的分离形式。该家庭的听力障碍成员存在严重的舌前感觉神经性听力障碍,并使用手语进行交流。建立了与位于7q号染色体上的微卫星标记的链接,其最大多点lod得分为3.8。纯合性区域跨越19 cM区域,由标记D7S3046和D7S644界定.European Journal of Human Genetics(2003)11,812-815。 doi:10.1038 / sj.ejhg.5201041

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号