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小儿脊髓性肌肉萎缩症 被引量:1

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作者 廖建湘
机构地区 深圳市儿童医院
出处 《中国实用儿科杂志》 CSCD 北大核心 2006年第8期570-572,共3页 Chinese Journal of Practical Pediatrics
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  • 1曾健,杨渤生,兰风华.脊肌萎缩症分子诊断研究进展[J].国外医学(临床生物化学与检验学分册),2005,26(10):712-714. 被引量:4
  • 2Hausmanowa-Petrusewicz I,Vrbova G.Spinal muscular atrophy:a delayed development hypothesis[J].Neuroreport,2005,16(7):657-661.
  • 3Su YN,Hung CC,Li H,et al.Quantitative analysis of SMN1 and SMN2 genes based on DHPLC:a highly efficient and reliable carrier-screening test[J].Hum Mutat,2005,25:460-467.
  • 4Yaron Y,Cohen T,Mey-Raz N,et al.Detection of spinal muscular atrophy carriers by nested polymerase chain reaction in single sperm cells[J].Genetic Testing,2006,10(1):18-23.
  • 5Singh NK,Sing NN,Androphy NJ,et al.Splicing of a critical exon of human survival neuron is regulated by a unique silencer element located in the last intron[J].Mol Cell Biol,2006,26(4):1333-1346.
  • 6Federici T,Boulis NM.Gene-based treatment of motor neuron diseases[J].Muscle Nerve,2006,33:302-323.
  • 7Bush A,Fraser J,Jardine E,et al.Respiratory management of the infant with type 1 spinal muscular atrophy[J].Arch Dis Child,2005,90:709-711.

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同被引文献13

  • 1牟海燕,邹叶青,丁卫江.应用PCR-酶切法进行脊肌萎缩症基因诊断[J].中国优生与遗传杂志,2004,12(6):34-35. 被引量:3
  • 2郐艳荣,李晓红,左文莉.脊肌萎缩症的分子遗传学研究进展[J].中国优生与遗传杂志,2006,14(4):1-4. 被引量:4
  • 3曾健,黄梁浒,郑德柱,杨渤生,兰风华.扩增阻滞突变系统在脊肌萎缩症快速诊断中的应用[J].中华检验医学杂志,2007,30(3):304-305. 被引量:6
  • 4Lefebvre S, Burgten L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene [J]. Cell,1995,80(1):155-165.
  • 5Cobben J M, de Visser M, Seheffer H, et al. Confirmation of clinical diagnosis in requests for prenatal predication of SMA type Ⅰ[J]. J Neurol Neurosurg Psychiatry, 1993,56(3) :319-321.
  • 6Melki J, Lefebvre S, Burglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies[J]. Science, 1994,264(5164) : 1474-1477.
  • 7Palfi Z, Jae N, Preusser C, Kaminska K H, et al. SMN-assisted assembly of snRNP-specific Sm cores in trypanosomes[J]. Genes Dev,2009,23(14): 1650-1664.
  • 8Monani U R, Lorson C L, Parsons D W, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2[J]. Hum Mol Genet, 1999,8(7) : 1177-1183.
  • 9Hsieh-Li H M, ChangJ G, Jong YJ , et al. A mouse model for spinal muscular atrophy[J]. Nat Genet, 2000,24(1) :66-70.
  • 10Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)[J]. Hum Mutat, 2000, 15(3):228- 237.

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