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我国九家系类脂蛋白沉积症临床分析 被引量:1

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机构地区 山西省儿童医院
出处 《山西医药杂志(上半月)》 CAS 2009年第11期1040-1041,共2页 Shanxi Medical Journal
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参考文献6

  • 1Hamada T. Lipoid proteinosis. Clin Exp Dermatol, 2002, 27: 624-629.
  • 2Chan I, Bingewar G, Patil K, et al. An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507 delT) in the extracellular matrix protein 1 gene. Br J Dermatol, 2004,151 : 726-727.
  • 3王昌媛,章平肇,张福仁,刘杰,田洪青,余龙.类脂质蛋白沉积症一家系的基因突变检测[J].中华皮肤科杂志,2005,38(11):659-661. 被引量:12
  • 4韩蓓蓓,张杏莲,刘强,陈喜雪,朱学骏.一类脂蛋白沉积症家系ECM1基因突变检测[J].中国麻风皮肤病杂志,2008,24(3):173-175. 被引量:5
  • 5Van Hougenhouck-Tulleken W,Chan I, Hamada T, et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol, 2004,151 : 413-423.
  • 6Hamada T, Melean WH, Ramsay M, et al. l.ipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM). Hum Mol Gene,2002,11:833-840.

二级参考文献14

  • 1王昌媛,周桂芝,张福仁,刘殿昌,田洪青.中国5家系类脂蛋白沉积症临床和遗传特点分析[J].中国麻风皮肤病杂志,2005,21(2):96-98. 被引量:2
  • 2Urbach E,Wiethe C.Lipoidosis cutis et mucosae. Virchows Arch( Pathol Anat ), 1929, 273:285-319.
  • 3Hamada T. Lipoid Droteinosis. Clin Fxp Dermatol, 2002, 27: 624-629.
  • 4Hamada T, McLean WH, Ramsay M, et al.Lipoid pmteinosis maps to lq21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM 1 ). Hum Mol Genet, 2002, 11: 833-840.
  • 5Chan I. Bingewar G. Patil K. et al. An Indian child with lipoid proteinnsis resulting front a recurrent frameshift mutation (507delT) in the extracelhdar matrix protein I gene. Br J Dermatol, 2004, 151:726-727.
  • 6Hamada T,Wessagowit V,Snuth AP,et al.Extracellular matrix protein 1 gene(ECM 1)mutations in lipoid proteinosis and genotype-phenotype correlation.J Invest Dermatol,2003,120:345—350.
  • 7Chan I.The role of extracellular matrix protein 1 in human skin.Clin Exp Dermatol,2004,29:52-56.
  • 8Smits P,Ni J,Feng P,et al.The human extraeellular matrix gene 1(ECM 1):genomic structure,cDNA cloning,expression pattern,and chromosomal localization.Genomics.1997.45:487—495.
  • 9Mongiat M,Fu J,Oldershaw R,et al.Perlecan protein core interacts with extracellular matrix protein 1(ECM 1),a glycoprotein involved in bone formation and angiogenesis.J Biol Chem,2003,278:17491—17499.
  • 10Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002; 27 : 624 - 629.

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