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Volumn 154, Issue 5, 2006, Pages 995-997

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

Author keywords

COL7A1; Epidermolysis bullosa pruriginosa; Pruritus; Type VII collagen

Indexed keywords

ANTIHISTAMINIC AGENT; BETAMETHASONE;

EID: 33645822356     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07148.x     Document Type: Article
Times cited : (9)

References (10)
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  • 4
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    • Strategy for identification of sequence variants in COL7A1, and a novel 2 bp deletion mutation in recessive dystrophic epidermolysis bullosa
    • 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 14.
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    • Christiano, A.M.1    Hoffman, G.G.2    Zhang, X.3
  • 5
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    • Epidermolysis bullosa pruriginosa: Dystrophic epidermolysis bullosa with distinctive clinicopathological features
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    • Mellerio JE Ashton GH Mohammedi R et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999 112 984 7.
    • (1999) J Invest Dermatol , vol.112 , pp. 984-7
    • Mellerio, J.E.1    Ashton, G.H.2    Mohammedi, R.3
  • 7
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    • Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: A splice site mutation in the type VII collagen gene
    • Christiano AM Fine JD Uitto J. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. J Invest Dermatol 1997 109 811 14.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.