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Volumn 29, Issue 1, 2004, Pages 74-76

A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; LYSINE; THREONINE;

EID: 0842287386     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01434.x     Document Type: Article
Times cited : (4)

References (13)
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  • 2
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    • Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
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  • 3
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    • A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
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  • 4
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    • Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
    • Rugg EL, Morley SM, Smith FJ et al. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nature Genet 1993; 5: 294-300.
    • (1993) Nature Genet , vol.5 , pp. 294-300
    • Rugg, E.L.1    Morley, S.M.2    Smith, F.J.3
  • 5
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    • The genetic basis of Weber-Cockayne epidermolysis bullosa simplex
    • Chan YM, Yu QC, Fine JD, Fuchs E. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci USA 1993; 90: 7414-8.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 7414-7418
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  • 6
    • 0028230751 scopus 로고
    • Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex
    • Chan YM, Yu QC, LeBlanc-Straceski J et al. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci 1994; 107: 765-74.
    • (1994) J Cell Sci , vol.107 , pp. 765-774
    • Chan, Y.M.1    Yu, Q.C.2    LeBlanc-Straceski, J.3
  • 7
    • 0031715041 scopus 로고    scopus 로고
    • Novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex
    • Galligan P, Listwan P, Siller GM, Rothnagel JAA. novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. J Invest Dermatol 1998; 111: 524-7.
    • (1998) J Invest Dermatol , vol.111 , pp. 524-527
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  • 8
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    • (1998) J Invest Dermatol , vol.111 , pp. 900-902
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  • 9
    • 0031434675 scopus 로고    scopus 로고
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  • 10
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    • Soerensen CB, Ladekjaer-Mikkelsen AS, Andresen BS et al. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol 1999; 112: 184-90.
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    • (2001) J Invest Dermatol , vol.116 , pp. 964-969
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  • 12
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  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.