Analysis of Mutations in COL7A1 Gene in a Hallopeau-Siemens Variant of Recessive Dystrophic Epidermolysis Bullosa

( views:, downloads: )
Author:
JIANG Wei()
SUN Ying()
CHEN Xi-xue()
LI Song()
BU Ding-fang()
ZHU Xue-jun()
Journal Title:
CHINESE JOURNAL OF DERMATOLOGY
Issue:
Volume 38, Issue 10, 2005
DOI:
Key Word:

Abstract:

  • [1]靳培英.大疱性表皮松解症.中华皮肤科杂志,2004,37:561-562.
  • [2]Christiano AM, Hoffman GG, Zhang X, et al. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat,1997, 10: 408-414.
  • [3]Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol, 2000, 42: 1051-1066.
  • [4]Destro M, Wallow IH, Brightbill FS. Recessive dystrophic epidermolysis bullosa. Arch Ophthalmol, 1987, 105: 1248-1252.
  • [5]Tamai K, Ishida-Yamamoto A, Matsuo S, et al. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type Ⅶ collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab Invest, 1997, 76: 209-217.
  • [6]姜薇,杨勇,朱学骏,等.痒疹样营养不良型大疱性表皮松解症一家系的基因突变.中华皮肤科杂志,2002,35:442-444.
  • [7]Cserhalmi-Friedman PB, McGrath JA, Mellerio JE, et al. Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest, 1998, 78: 1483-1492.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn