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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

376 related items for PubMed ID: 12353709

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  • 9. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
    Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D.
    Br J Dermatol; 2011 Sep; 165(3):678-82. PubMed ID: 21574979
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  • 11. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
    Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T, Bruckner-Tuderman L.
    Hum Mol Genet; 1997 Jul; 6(7):1125-35. PubMed ID: 9215684
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  • 18. The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa.
    Mu YZ, Du ZC, Zhang ZZ, Yang H, Chen X, Wang YB, Liu LL.
    J Eur Acad Dermatol Venereol; 2018 Oct; 32(10):e372-e373. PubMed ID: 29512192
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  • 20. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
    Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J.
    J Invest Dermatol; 1997 Jun; 108(6):947-9. PubMed ID: 9182828
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