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先天性眼外肌纤维化1家系

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出处 《中国实用眼科杂志》 CSCD 北大核心 2005年第3期325-326,共2页 Chinese Journal of Practical Ophthalmology
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参考文献3

  • 1杨景存.眼肌学[M].郑州:河南科学技术出版社,1994.81.
  • 2Flaherty MP, Grattan Smith P, Steinberg A, et al. Congenital fibrosis of theextraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology, 2001, 108(7): 1313.
  • 3杨先.先天性纤维化综合征分子遗传学研究进展[J].国际眼科纵览,2004,29(1):61-63. 被引量:1

二级参考文献26

  • 1David A. Mackey,Wai-Man Chan,Christopher Chan,W. Gillies,Anne M. Brooks,Justin O’Day,Elizabeth C. Engle.Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus[J]. Human Genetics . 2002 (5)
  • 2SwansonDJ,AdachiM,LewisEJ,etal.Thehomeodomainpro teinArixpromotesproteinkinaseA dependentactivationofthedo pamineβ hydroxylasepromoterthroughmultipleelementsandin teractionwiththecoactivatorcAMP responseelement bindingpro tein binding. Journal of Biochemistry . 2000
  • 3Nusse R,Varmus HE,Wnt genes. Cell . 1992
  • 4McMullan TF,Collins AR,Tyers AG,et al.A novel X-linked dominant condition: X-linked congenital isolated ptosis. The American Journal of Human Genetics . 2000
  • 5Sener EC,Lee BA,Turgut B,et al.A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOMI locus on chromosome 12. Archives of Ophthalmology . 2000
  • 6Traboulsi EI,Lee BA,Mousawi A,et al.Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. American Journal of Ophthalmology . 2000
  • 7Black GCM,Perveen R,Hatchwell E,et al.Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia(CFEOM). Journal of Medical Genetics . 1998
  • 8Gottlob I,Jain S,Engle EC.Elevation of one eye during tooth brushing. American Journal of Ophthalmology . 2002
  • 9D ickinson M E,K rum laufR,M cM ahon A P.Evidence for a m itogenic effect ofW nt-1in the developing m am m alian centralnervous system. D evelopm ent . 1994
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