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少汗型外胚层发育不良1例 被引量:2

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作者 朱小红 李明
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2006年第11期752-752,共1页 Journal of Clinical Dermatology
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同被引文献17

  • 1沈红霞,周剑峰,柴建农,李晓忠.先天性无痛症(附1例报告及文献复习)[J].中国当代儿科杂志,2009,11(3):197-198. 被引量:5
  • 2石慧娟,方群,王连唐.X染色体倒位伴X连锁无汗性外胚叶发育不良一个家系的产前诊断[J].中华医学杂志,2005,85(26):1845-1848. 被引量:6
  • 3张慧,权晟,高敏,肖风丽,陆闻生,沈玉君,周伏圣,杨森,张学军.X性连锁少汗性外胚叶发育不良一家系的基因诊断[J].中国医学科学院学报,2007,29(2):201-204. 被引量:8
  • 4Kere J,Srivastava AK,Montonen O,et al.X-linked anhidrotic(hypohidrotic)ectodermal dysplasia is caused by mutation in a novel transmembrane protein[J].Nat Genet,1996,13(4):409-416.
  • 5Bayés M,Hartung AJ,Ezer S,et al.The anhidrotic ectodermal dysplasia gene(EDA)undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats[J].Hum Mol Genet,1998,7(11):1661-1669.
  • 6Ezer S,Bayés M,Elomaa O,et al.Eetoclysplasin is a collagenous trimeric type Ⅱ membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells[J].Hum Mol Genet,1999,8(11):2079-2086.
  • 7Vincent MC,Biancalana V,Ginisty D,et al.Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia[J].Eur J Hum Genet,2001,9(5):355-363.
  • 8Huang C,Yang Q,Ke T,et al.A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia[J].J Hum Genet,2006,51(12):1133-1137.
  • 9Nishibu A,Hashiguchi T,Yotsumoto S,et al.A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia[J].Dermatology,2003,207(2):178-181.
  • 10Zhang XJ,Chen JJ,Song YX,et al.Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia[J].Arch Dermatol Res,2003,295(1):38-42.

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