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遗传性耳聋的分子诊断和遗传咨询 被引量:5

Genetic testing and counseling for hereditary deafness
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作者 戴朴
出处 《实用医学杂志》 CAS 2005年第2期116-118,共3页 The Journal of Practical Medicine
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  • 1袁慧军,姜泗长,杨伟炎,郭维维,曹菊阳,杨卫平,戴朴.氨基糖甙类抗生素致聋家系线粒体DNA1555G点突变分析[J].中华耳鼻咽喉科杂志,1998,33(2):67-70. 被引量:32
  • 2袁慧军,姜泗长,杨伟炎,郭维维,曹菊阳,杨卫平,戴朴.氨基糖甙类抗生素致聋患者线粒体DNA1555^G点突变分析[J].中华医学遗传学杂志,1999,16(3):141-144. 被引量:16
  • 3李为民 韩东一 袁慧军 等.遗传性耳聋29家系线粒体基金突变检测与系谱分析[J].临床耳鼻咽喉科杂志,2001,15:53-53.
  • 4Smith RJ. Robin NH. Genetic testing for deafness-GJB2 and SLC26A4 as causes of deafness. J Commun Disord, 2002, 35(4): 367 - 377.
  • 5Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1)hearing loss. Am J Hum Genet, 1998, 62(4): 792 - 799.
  • 6Zelante L, Gasparini P, Estivill X, et al, Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet, 1997, 6(9): 1605 - 1609.
  • 7Sugata A, Fukushima K, Sugata K, et al. High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations. Auris Nasus Larynx,2002, 29(3): 231 - 239.
  • 8Park HJ, Shaukat S, Liu XZ, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet, 2003,40(4): 242 - 248.
  • 9Vervoort VS, Smith ILl, O' Brien J, et al. Genomic rearrangements of EYA 1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet, 2002,10( 11 ): 757 - 766.
  • 10Hoth CF, Milunsky A, Lipsky N, et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome(WS-Ⅲ) as well as Waardenburg syndrome type 1 (WS-1). Am J Hum Genet, 1993, 52(3): 455 -462.

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