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Pasini型大疱性表皮松解症一家系报道

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出处 《中国麻风皮肤病杂志》 2008年第2期143-144,共2页 China Journal of Leprosy and Skin Diseases
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参考文献4

  • 1Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and luboratory criteria for subtypes of inherited epidermolysis ballosa: a consensus report by the subcommittee on diagnosis and classification of the national epidermolysis bullosa registry. J Am Acad Dermatol 1991 ;24:119 - 135.
  • 2Fine JD, Eady MRJ, Bauer EA, et al. Special Report: Revised classification system for inherited epidermolysis bullosa; Report of the second intemational consensus meeting on diagnosis and classification of epidennolysis bullosa. J Am Acad Dermatol 2000;42:1051 - 1066.
  • 3Mellerio JE, Salas- Alanis JC, Talamantes ML, et al. A recurrent glyeine substitution mutation, G2043R, in the type collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. Br J Dermatol 1998; 139:730 - 737.
  • 4杨森,李诚让,宋映雪,杨春俊,李明,张学奇,葛宏松,张学军.显性营养不良型大疱性表皮松解症家系临床表现与诊断分析[J].中国皮肤性病学杂志,2004,18(2):95-100. 被引量:4

二级参考文献9

  • 1Fine JD,Bauer EA,Briggaman RA,et al.Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa[J].J Am Acad Dermatal,1991,24(1):119-135.
  • 2Gedde-Dah1 T.Epidermolysis bullosa:A clinical,genetic and epidemiological study[M].Baltimore:Johns Hopkins,1971.3-5.
  • 3Dunnill MGS,McGrath JA,Richards AJ,et al.Eady RAJ Clinical pathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa[J].J Invest Dermatol,1996,107:171-177.
  • 4Kon A,McGrath JA,Pulkkinen L,et al.Uitto J Glycine substitution mutations in the type Ⅶ collagen gene (COL7A1) in dystrophic epidermolysis bullosa:implications for genetic counseling[J].J Invest Dermatol,1997,108:224-228.
  • 5Mellerio JE,Ashton GHS,Mohammedi R,et al.Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations underlying epidermolysis bullosa pruriginosa[J].J Invest Dermatol,1999,112:984-987.
  • 6Bruckner-Tuderman L.Hereditary skin diseases of anchoring fibrils[J].J Dermatol Sci,1999,20:122-123.
  • 7Christiano AM,Ryynnen M, Uitto J.Dominant dystrophic epidermolysis bullosa:identification of a glycine-toserine substitution in the triple-helical domain of type Ⅶ collagen[J].Proc Natl Acad Sci USA,1994,91:3549-3553.
  • 8Fine JD,Eady MRJ,Bauer EA,et al.Special Report:Revised classification system for inherited epidermolysis bullosa;Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa[J].J Am Acad Dermatol,2000,42(6)
  • 9Dharma B,Moss C,McGrath JA,et al.Dominant dystrophic epidermoluysis bullosapresent as familial nail dystrophy[J].Clin Exp Dermatol,2001,26(1):93-96.

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