期刊文献+

前庭水管扩大的遗传学研究

下载PDF
导出
摘要 前庭水管扩大是一种常见的先天性内耳畸形,与 SLC26A4基因突变有关。本文综述了 SLC26A4基因的结构、功能,导致前庭水管扩大的突变点,突变遗传方式及该基因的检测方法。
出处 《中国眼耳鼻喉科杂志》 2005年第3期189-191,共3页 Chinese Journal of Ophthalmology and Otorhinolaryngology
  • 相关文献

参考文献21

  • 1Alvassori GE, Clemis JD. The large vestibular aqueduct syndrome.Laryngoscope. 1978,88: 723-728.
  • 2Emmett JR. The Large vestibular aqueduct syndrome. Am J Otol, 1985,6: 387-403.
  • 3Arcand P, Desrosiers M, Dube J, et al. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol, 1991,20: 247-250.
  • 4Zalzal GH, Tomaski SM, Vezina LG, et al. Enlarged vestibular aqueduct and sensorineural hearing loss in childhood. Arch Otolaryngol Head Neck Sug, 1995,121:23-28.
  • 5Goh EK, Shim WY, Rob HJ, et al. Familial enlarged vestibular aqueduct syndrome. Am J Otolaryngol, 2001,22: 286-290.
  • 6Abe S, Usami S, Hoover DM, et al. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet, 1999,82:322-328.
  • 7Scott DA, Wang R, Kreman TM, et al. The pendred syndrome encodes a chloride-iodide transport protein. Nature Genet, 1992,21:440-443.
  • 8Reardon W, Mahoney CFO, Trembath R, et al. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. Q J Med,2000,93:99-104.
  • 9Kraiem Z, Heinrich R, Sadeh O, et al.Sulfate transport is not impaired in Pendred syndrome thyrocyte. J Clin Endocrinol Metab, 1999,84:2574-2575.
  • 10Kitamura K, Takahashi K, Noguchi Y, et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Oto-Laryngological,2000,120: 137-141.

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部