Mutations in COL7AI gene in a family with Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa

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Author:
ZHENG Yan-hong()
ZHAO Jun-yu()
HUANG Yong-chu()
BU Ding-fang()
JIANG Wei()
ZHU Xue-jun()
Journal Title:
INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
Issue:
Volume 33, Issue 03, 2007
DOI:
Key Word:

Abstract:

  • [1]姜薇,孙莹,陈喜雪,等.Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症一例的基因突变研究.中华皮肤科杂志,2005,38(10):597-599.
  • [2]Gardella R,Zoppi N,Fermboli S,et al.Three homozygous PTC mutations in the collagen type Ⅶ gene of patients affected by recessive dystrophic epidermolysis bullosa:analysis of transcript levels in dermal fibroblasts.Hum Mutat.1999,13(6):439-452.
  • [3]Fine JD,Eady RA,Bauer EA,et al.Revised classification system for inherited epidermolysis bullosa:Report of the Second Intemational Consensus Meeting on diagnosis and classification of epidermolysis bullosa.J Am Acad Dermatol,2000.42(6):1051.
  • [4]Jarvikallio A,Pulkkinen L,Uitto J.Molecular basis of dystrophic epidermolysis bullosa:moutations in the type Ⅶ collagen gene (COL7A1).Hum Mutat.1997,10(5):338-347.
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