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Journal Abstract Search

245 related items for PubMed ID: 14616374

  • 21. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
    Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, Eady RA, McGrath JA.
    Br J Dermatol; 1998 Oct; 139(4):730-7. PubMed ID: 9892921
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  • 25. 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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  • 28. A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
    Kraemer L, Wajid M, Christiano AM.
    Eur J Dermatol; 2006 Jul; 16(6):615-9. PubMed ID: 17229600
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  • 29. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.
    Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J.
    Pediatr Dermatol; 2003 Jul; 20(3):243-8. PubMed ID: 12787275
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  • 30. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
    Lin Y, Chen XJ, Liu W, Gong B, Xie J, Xiong JH, Cheng J, Duan XL, Lin ZC, Huang LL, Wan HY, Liu XQ, Song LH, Yang ZL.
    PLoS One; 2012 Jul; 7(11):e50579. PubMed ID: 23226319
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  • 33. 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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  • 34. Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
    Salas-Alanis JC, Mellerio JE, Amaya-Guerra M, Ashton GH, Eady RA, McGrath JA.
    Br J Dermatol; 1998 May; 138(5):852-8. PubMed ID: 9666834
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  • 36. 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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  • 38. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
    Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H.
    J Hum Genet; 2005 Sep 12; 50(10):543-546. PubMed ID: 16189623
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  • 39. Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
    Kon A, Pulkkinen L, Ishida-Yamamoto A, Hashimoto I, Uitto J.
    J Invest Dermatol; 1998 Sep 12; 111(3):534-7. PubMed ID: 9740253
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  • 40. 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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