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从相关基因突变再看Alport综合征和薄基膜肾病 被引量:3

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作者 王芳 丁洁
出处 《肾脏病与透析肾移植杂志》 CAS CSCD 2004年第4期366-368,385,共4页 Chinese Journal of Nephrology,Dialysis & Transplantation
基金 国家自然科学基金资助项目 (No :3 9770 780 3 9970 775及 3 0 3 714 95 )
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参考文献22

  • 1Kashtan CE. Fanilial hematuric syndromes-Alport syndrome, Thin glomerular basement membrane disease and Fechtner/Epstein syndromes. Contrib Nephrol. Basel, Karger, 2001, 136:pp79
  • 2Hudson BG, Tryggvason K, Sundaramoorthy M, et al. Alport's syndrome, Goodpasture's syndrome, and type Ⅳ collagen. N Engl J Med,2003,348: 2543.
  • 3Savige J, Rana K, Tonna S, et al. Thin basement membrane nephropathy. Kidney Int, 2003, 64:1169
  • 4Kashtan CE. Alport syndrome and thin glomerular basement membrane diseases. J Am Soc Nephrol, 1998, 9:1736
  • 5丁洁,柴青,刘景城,张英,杨霁云.薄基底膜肾病患者基底膜Ⅳ型胶原α链的表达[J].肾脏病与透析肾移植杂志,2000,9(2):123-125. 被引量:9
  • 6Lemmink HH, Mochizuki T, van den Heuvel LPWJ, et al. Mutations in the type Ⅳ collagen alpha-3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum. Molec Genet, 1994, 3:1269
  • 7Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha-3 ( Ⅳ ) and alpha-4 ( Ⅳ ) collagen genes in autosomal recessive Alport syndrome. Nature Genet, 1994, 8:77
  • 8Knebelmann B, Forestoer L, Laurent D, et al. Splice- mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Gene, 1995, 4:675
  • 9Ding J, Stitzel J, Berry P, et al. Autosomal recessive Alport syndrome:mutation in the COLAA3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Am Soc Nephrol, 1995, 5:1714
  • 10Heidet L, Arrondel C, Forstier L, et al. Structure of the human type Ⅳcollagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Nephrol, 2001, 12:97

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共引文献8

同被引文献35

  • 1王云峰,丁洁,王芳.杂合突变型COL4A5基因表达与Alport综合征女性表型关系分析[J].中华肾脏病杂志,2005,21(1):13-17. 被引量:5
  • 2侯平,陈育青,丁嘉祥,李光韬,张宏.常染色体隐性遗传Alport综合征一家系COL4A3及COL4A4基因突变分析[J].中华肾脏病杂志,2005,21(11):649-653. 被引量:2
  • 3王芳,丁洁.Alport综合征的研究新进展[J].中国医师进修杂志(内科版),2006,29(6):1-4. 被引量:6
  • 4丁洁,杨霁云,刘景城,俞礼霞.免疫荧光学方法检查皮肤组织Ⅳ型胶原α5链诊断Alport综合征[J].中华儿科杂志,1997,35(4):177-179. 被引量:33
  • 5Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic Acids Res, 1988, 16: 1215.
  • 6Heidet L, Arrondel L, Forestier L, et al. Structure of the human type Ⅳ collagen gene COL4A3 and mutations in autosomal Alport's syndrome. J Am Soc Nephrol, 2001, 12:97-106.
  • 7Longo I, Porcedda P, Mari F, et al. COL4A3/COL4A4mutations: from familial hematuria to autosomal-dominant or recessive Alport's syndrome. Kidney Int, 2002, 61: 1947-1956.
  • 8Gubler MC, Knebelmann B, Beziau A, et al. Autosomal recessive Alport's syndrome: immunohistochemical study of type Ⅳ collagen chain distribution. Kidney Int, 1995, 47:1142-1147.
  • 9Boye E, Mollet G, Forestier L, et al. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport's syndrome. Am J HumGenet, 1998, 63: 1329-1340.
  • 10Lemmink HH, Mochizuki T, van den Heuvel LPWJ, et al.Mutations in the type Ⅳ collagen alpha-3(COL4A3) gene in autosomal recessive Alport's syndrome. Hum Molec Genet,1994, 3: 1269.

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