期刊文献+

肾上腺脑白质营养不良的分子诊断与分子机制 被引量:9

Molecular diagnosis and mechanism of adrenoleukodystrophy
下载PDF
导出
出处 《东南国防医药》 2005年第5期321-323,345,共4页 Military Medical Journal of Southeast China
  • 相关文献

参考文献6

二级参考文献35

  • 1[1]Lachtermacher M B,Seuanez H N,Moser A B,et al.Determination of 30 X-linked adreno leukodystrophy mutations,including 15 not previously described.Hum Mutat,2000,15(4):348~353
  • 2[2]Newton C R,Graham A,Heptinstall L E,et al.Analysis of any point mutation in DNA.The amplification refractory mutation system(ARMS).Nucl Acid Res,1989,17(7):2503~2516
  • 3[3]Mosser J,Douar A M,Sarde C O,et al.Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.Nature,1993,361(6414):726~730
  • 4[4]Krasemann E W,Meier V,Korenke G C,et al.Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.Hum Genet,1996,97(3):194~197
  • 5[5]Kok F,Neumann S,Sarde C O,et al.Mutational analysis of patients with X-linked adreno leukodystrophy.Hum Mutat,1995,6(2):104~115
  • 6[6]Braun A,Kammerer S,Ambach H,et al.Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.Hum Mutat,1996,7( 2 ):105~108
  • 7[7]Eichler E E,Budarf M L,Rocchi M,et al.Interchromosomal duplications of the adreno leukodystrophy locus:a phenomenon of pericentromeric plasticity.Hum Molec Genet,1997,6(7):991~1002
  • 8Liu W,Qian C,Comeau K,et M. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome[J]. Hum Mol Genet, 1996,5(10),1581-1587.
  • 9Foord OS,Rose EA. Long-distance PCR[J]. PCR Methods Appl, 1994,3(6) :S149-161.
  • 10Mosser J,Douar AM,Sarde CO,et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters[J]. Nature, 1993,361: 726-730.

共引文献26

同被引文献89

引证文献9

二级引证文献14

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