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Journal Abstract Search

324 related items for PubMed ID: 23546949

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  • 5. 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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  • 7. Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.
    Chao SC, Lee JY.
    J Formos Med Assoc; 2007 Jan; 106(1):86-91. PubMed ID: 17282977
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  • 9. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
    Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M.
    Hum Mutat; 1999 Jan; 13(6):439-52. PubMed ID: 10408773
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  • 10. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
    Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.
    J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979
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  • 11. 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; 13(4):229-33. PubMed ID: 15086338
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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; 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; 91(3):262-6. PubMed ID: 21448560
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  • 15. Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
    Yonei N, Ohtani T, Furukawa F.
    J Dermatol; 2006 Nov; 33(11):802-5. PubMed ID: 17073998
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  • 16. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
    Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L.
    Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
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  • 19. Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
    Titeux M, Mejía JE, Mejlumian L, Bourthoumieu S, Mirval S, Tonasso L, Heller M, Prost-Squarcioni C, Hovnanian A.
    Hum Mutat; 2006 Mar; 27(3):291-2. PubMed ID: 16470588
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