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Journal Abstract Search

301 related items for PubMed ID: 17282977

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  • 3. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
    Dang N, Klingberg S, Marr P, Murrell DF.
    J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959
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  • 4. A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
    Park J, Chae H, Kim M, Kim Y, Park IY, Shin JC, Park YM.
    Genet Mol Res; 2013 Mar 11; 12(1):678-82. PubMed ID: 23546949
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  • 7. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
    Zhang XJ, Song YX, Zhang XQ, Yang S, Li M, Li CR, Yang CJ, Yang J.
    Clin Exp Dermatol; 2003 Jul 11; 28(4):437-9. PubMed ID: 12823310
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  • 8. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
    Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J.
    J Invest Dermatol; 1997 Feb 11; 108(2):224-8. PubMed ID: 9008239
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  • 10. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA.
    J Invest Dermatol; 1996 Aug 11; 107(2):171-7. PubMed ID: 8757758
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  • 11. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
    Varki R, Sadowski S, Uitto J, Pfendner E.
    J Med Genet; 2007 Mar 11; 44(3):181-92. PubMed ID: 16971478
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  • 12. Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
    Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H.
    Pediatr Int; 2013 Apr 11; 55(2):234-7. PubMed ID: 23679163
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  • 13. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
    Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA.
    Acta Derm Venereol; 2011 May 11; 91(3):262-6. PubMed ID: 21448560
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  • 14. Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
    Zhu KJ, Zhu CY, Zhou Y, Fan YM.
    Genet Mol Res; 2014 Sep 12; 13(3):7587-92. PubMed ID: 25222259
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  • 15. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
    Ryoo YW, Kim BC, Lee KS.
    J Dermatol Sci; 2001 Jun 12; 26(2):125-32. PubMed ID: 11378329
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  • 17. [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].
    Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros MP, Puzenat E, Chantegret C, Vabres P, Lacour JP, Aubin F.
    Ann Dermatol Venereol; 2015 May 12; 142(5):346-9. PubMed ID: 25683012
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  • 18. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.
    J Dermatol Sci; 2009 May 12; 54(2):114-20. PubMed ID: 19261445
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  • 19. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
    Ishiko A, Masunaga T, Ota T, Nishikawa T.
    Exp Dermatol; 2004 Apr 12; 13(4):229-33. PubMed ID: 15086338
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