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Alport综合征致病基因的研究进展

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作者 戴文 高岩
出处 《中国实用儿科杂志》 CSCD 北大核心 2006年第10期783-785,共3页 Chinese Journal of Practical Pediatrics
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参考文献20

  • 1Scott JH,Keqin Z,Barbara J,et al.Transfer of the α5 (Ⅳ) collagen chain gene to smooth muscle restores in vivo expression of theα6(Ⅳ) collagen chain in a canine model of alport syndrome[J].Am J Pathol,2003,162:873-885.
  • 2Persson U,Hertz JM,Wieslander J,et al.Alport syndrome in southern Sweden[J].Clin Nephrol,2005,64 (2):85-90
  • 3Borza DB,Bondar O,Todd P,et al.Quaternary organization of the good pasture autoantigen,the alpha 3 (Ⅳ) collagen chain.Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains[J].J Biol Chem,2002,277(42):40075-40083
  • 4Heidet L,Cai Y,Guicharnaud L,et al.Glomerular expression of type Ⅳ collagen chains in normal and X-linked Alport syndrome kidneys[J].Am J Pathol,2000,156(6):1901-1910.
  • 5Harvey SJ,Zheng K,Sado Y,et al.Role of distinct type Ⅳ collagen networks in glomerular development and function[J].Kidney Int,1998,54:1857-1866.
  • 6Barker DF,Hostikka SL,Zhou J,et al.Identificationof mutations in the COL4A5 collagen gene in Alport syndrome[J].Science,1990,248:1224-1227
  • 7Barker DF,Denison JC,Atkin CL,et al.Efficient detection of Alport syndrome COI4A5 mutations with multiplex genomic PCRSSCP[J].Am J Med Genet,2001,98(2):148-160.
  • 8Hertz JM,Juncker I,Persson U,et al.Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome[J].Hum Mutat,2001,18 (2):141-148.
  • 9Hertz JM,Persson U,Juncker I,et al.Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene[J].Hum Genet,2005,17:1-6.
  • 10Jais JP,Knebelmann B,Giatras I,et al.X-linked Alport syndrome:natural history in 195 families and genotype-phenotype correlations in males[J].J Am Soc Nephrol,2000 (1):649-657.

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