期刊文献+

应用全血直接PCR酶切法快速诊断儿童脊肌萎缩症 被引量:2

Whole blood direct PCR-endonuclease method for rapid diagnosis of autosomal recessive spinal muscular atrophy in children
原文传递
导出
出处 《中华儿科杂志》 CAS CSCD 北大核心 2005年第9期701-702,共2页 Chinese Journal of Pediatrics
  • 相关文献

参考文献5

  • 1van der Steege G, Grootscholten PM, van der Vlies P,et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 1995,345:985-986.
  • 2Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 1995, 80:155-165.
  • 3McAndrew PE, Parsons DW, Simard LR,et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet, 1997, 60:1411-1422.
  • 4Cusin V, Clermont O, Gérard B,et al. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counseling. J Med Genet, 2003, 40:e39.
  • 5李崎,马燕琳,潘乾,夏家辉,戴和平.应用聚合酶链式反应-酶切法进行脊髓性肌萎缩的基因诊断及产前诊断[J].中华医学杂志,2001,81(23):1447-1449. 被引量:9

二级参考文献6

  • 1Cobben JM,de Visser M,Scheffer H,et al.Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I[].Journal of Neurology Neurosurgery and Psychiatry.1993
  • 2Rodrigues NR,Owen N,Talbot K,et al.Gene deletions in spinal muscular atrophy[].Journal of Medical Genetics.1996
  • 3Campbell L,Potter A,Ignatius J,et al.Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype[].The American Journal of Human Genetics.1997
  • 4Van der Steege G,Grootschholten PM,van der Vlies P,et al.PCRbased DNA test to confirm the clinical diagnosis of autosomal recessive spinal muscular atrophy[].The Lancet.1995
  • 5Velasco E,Valero C,Valero A,et al.Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype[].Human Molecular Genetics.1996
  • 6Lefebvre S,Burglen L,Reboullet S,et al.Identification and characterization of a spinal muscular atrophy-determining gene[].Cell.1995

共引文献8

同被引文献18

引证文献2

二级引证文献9

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