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阿尔茨海默病早老素-1基因第6号外显子突变分析 被引量:2

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出处 《中华老年医学杂志》 CAS CSCD 北大核心 2005年第1期36-38,共3页 Chinese Journal of Geriatrics
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  • 1马秋兰,钱采韵,刘焯霖,卢锡林,林宏川.阿尔茨海默病患者早老素-1基因5号外显子新突变点的研究[J].中国神经精神疾病杂志,1999,25(3):142-144. 被引量:12
  • 2陈彪,马秋兰.阿尔茨海默病病因学研究进展及治疗展望[J].中华神经科杂志,2003,36(2):158-160. 被引量:56
  • 3Marx J. Dissecting how persinilins function-and malfunction. Science, 1996, 274: 1838-1840.
  • 4盛树力 见:盛树力 裴进京 主编.早老素基因1和2及其突变[A].见:盛树力,裴进京,主编.老年性痴呆的临床和分子学基础.第1版[C].北京:科学技术文献出版社,1998.104-110.
  • 5Holcomb L, Gordon MN, Mc Gowan, et al. accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloidprecursor protein and presenilin 1 transgenes. Nat Med, 1998, 4:97-100.
  • 6Kim TW, pettingell WH. Alternative cleavage of Alzheimer associated prasenilins 1 during apoptosis by caspase-3 family protease. Science, 1997, 277:373-376.
  • 7Rossi L, Squitti R, Pasqualetti P, et al. Red blood cel lcopper, zinc superoxide dismutase activity is higher in Alzheimer's disease and is decreased by D-penicillamine.Neurosci Lett, 2002, 329:137.

二级参考文献2

  • 1马秋兰,国外医学.神经病学、神经外科分册,1997年,24卷,5期,252页
  • 2Mark P. Mattson,Sic L. Chan. Dysregulation of cellular calcium homeostasis in Alzheimer’s disease[J] 2001,Journal of Molecular Neuroscience(2):205~224

共引文献64

同被引文献14

  • 1McKhann G,Draclunan D,Folstein M,et al. Clinical diagnosis of Alzheimer's disease:Report of the Nincds-Adrda work group under the auspices of department of health and human services task force on Alzheimer's disease[J]. Neurology, 1984,39(3):939-944.
  • 2Anwar R,MeymisanTP,Ardley H,et al. Molecular analysis of the presenilin 1(s182) gene in "sporadic" cases of Alzheimer's disease[J]. Neurochem, 1996,66(4):1774-1777.
  • 3Boteve K,Vitek M,Mitsuda H,et al. Mutation analysis of presenilin 1 gene in Alzheimer's disease[J]. Lancet, 1996,347(9099):130-131.
  • 4Fraser PE,Yang DS,Yu G,et al. Presenilin structure, function and role in Alzheimer disease[J]. Biochimica Biophysica Acta, 2000,15(2):1-15.
  • 5Hayashi K. PCR-SSCP: a simple and sensitive method for detection of mutation of mutation in genomic DNA [J]. PCR Methods Appl, 1991, 1 (1): 33-38.
  • 6Wragg M, Hutton M, Talbot C, et al.. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease [J]. Lancet, 1996, 347: 509-512.
  • 7Dermaut B, Roks G, Theuns J, et al.. Original communication: Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease [J]. Journal of Neurology, 2001, 248 (11): 935-939.
  • 8Anwar R, Meymisan TP-Ardley H, et al.. Molecular analysis of the presenilin 1 (s182) gene in "sporadic" cases of Alzheimer's disease [J]. Neurochem, 1996, 66 (4): 1 774-1 777.
  • 9Boteve K, Vitek M, Mitsuda H, et al.. Mutation analysis of presenilin 1 gene in Alzheimer's disease [J]. Lancet, 1996, 347: 130-131.
  • 10马秋兰,钱采韵,刘焯霖,卢锡林,林宏川.Alzheimer病患者早老素-1基因第5外显子突变特征分析[J].中华医学遗传学杂志,1999,16(6):349-352. 被引量:4

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