期刊文献+

常染色体隐性遗传小脑性共济失调一家系报道

原文传递
导出
摘要 本文报道新近发现一个小脑性共济失调家系,兄妹两人发病,均表现为共济失调,并进行性加重。其父母为近亲结婚,呈常染色体隐性遗传,现报道如下。
出处 《中国优生与遗传杂志》 2010年第9期123-123,共1页 Chinese Journal of Birth Health & Heredity
  • 相关文献

参考文献7

二级参考文献75

  • 1谢秋幼,梁秀龄,李洵桦.国内南方人群遗传性共济失调不同基因亚型的分布状况(英文)[J].中国临床康复,2006,10(12):161-163. 被引量:6
  • 2Herman - Bert A, Stovanin G, Netter JC, et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3 - q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet, 2000, 67 (1) : 229-235.
  • 3Yanashita I, Sasaki H, Yabe I, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2 - cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4 - qter. Ann Neurol, 2000, 48(2) : 156-163.
  • 4Nakamura K, Jeong SY, Ichikawa Y, et al. SCA13, a novel autosomal dominant cerehellar ataxia caused by the expanded polyglutamine in TATA-binding protein identifide with IC2 antibody immunoscreening. Am J Hum Genet, 2000, 67(2): 389.
  • 5Miyoshi Y, Yamada T, Tanimura M, et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology, 2001, 57(1): 96-100.
  • 6Koichiro N, Seon - Yong J, Toshiki U, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA- binding protein. Hum Mol Genet, 2001, 10 (14): 1441-1448.
  • 7Gene Tests. Available at: http://www.genetests.org/. Accessed November 16, 2000.
  • 8Tan EK, Ashizawa T. Genetic testing in spinocerebellar ataxias. Arch Neurol, 2001, 58(2): 191- 195.
  • 9Harrington CA, Rosenow C, Retief J. Monitoring gene expression using microarrays. Curr Opin Microbiol, 2000, 3(3): 285- 291.
  • 10Monckton DG, Cayuela ML, Gould FK, et al. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum Mol Genet, 1999, 8(13): 2473-2478.

共引文献10

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