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Volumn 58, Issue 4, 1996, Pages 682-693

Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion/ insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; DNA; GLYCINE; MESSENGER RNA;

EID: 0029915438     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (40)

References (11)
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  • 2
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    • Epidermolysis bullosa dystrophica dominans (Pasini): A primary structural defect of the anchoring fibrils
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  • 3
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  • 4
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    • A film detection method for tritium labeled proteins and nucleic acids in polyacrylamide gels
    • Bonner WM, Laskey RA (1974) A film detection method for tritium labeled proteins and nucleic acids in polyacrylamide gels. Eur J Biochem 46:83-88
    • (1974) Eur J Biochem , vol.46 , pp. 83-88
    • Bonner, W.M.1    Laskey, R.A.2
  • 5
    • 0027296584 scopus 로고
    • Type VII collagen, anchoring fibrils, and epidermolysis bullosa
    • Burgeson RE (1993) Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 101:252-255
    • (1993) J Invest Dermatol , vol.101 , pp. 252-255
    • Burgeson, R.E.1
  • 6
    • 0028361030 scopus 로고
    • Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa
    • Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J (1994a) Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 21:160-168
    • (1994) Genomics , vol.21 , pp. 160-168
    • Christiano, A.M.1    Anhalt, G.2    Gibbons, S.3    Bauer, E.A.4    Uitto, J.5
  • 7
    • 0022591186 scopus 로고
    • Structural and functional properties of the dermo-epidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa
    • Tidman MJ, Eady RAJ (1986) Structural and functional properties of the dermo-epidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa. Arch Dermatol 122:278-281
    • (1986) Arch Dermatol , vol.122 , pp. 278-281
    • Tidman, M.J.1    Eady, R.A.J.2
  • 8
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    • Dystrophic forms of epidermolysis bullosa
    • Uitto J, Christiano AM (1993) Dystrophic forms of epidermolysis bullosa. Semin Dermatol 12:191-201
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  • 9
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    • Molecular basis of the dystrophic forms of epidermolysis bullosa: Mutations in the type VII collagen gene
    • (1994) Molecular basis of the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 287:16-22
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  • 10
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    • Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa
    • Uitto J, Hovnanian A, Christiano AM (1995) Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Phys 107:245-252
    • (1995) Proc Assoc Am Phys , vol.107 , pp. 245-252
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.