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Journal Abstract Search

300 related items for PubMed ID: 15807692

  • 1. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
    Massé M, Cserhalmi-Friedman PB, Falanga V, Celebi JT, Martinez-Mir A, Christiano AM.
    Clin Exp Dermatol; 2005 May; 30(3):289-93. PubMed ID: 15807692
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  • 3. 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 May; 13(6):439-52. PubMed ID: 10408773
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  • 4. 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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  • 5. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
    Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, Hashimoto I, Christiano AM, Uitto J, McGrath JA.
    Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157
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  • 6. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
    Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J.
    Genomics; 1994 May 01; 21(1):160-8. PubMed ID: 8088783
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  • 8. 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 01; 152(5):879-86. PubMed ID: 15888141
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  • 9. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N, Murrell DF.
    Exp Dermatol; 2008 Jul 01; 17(7):553-68. PubMed ID: 18558993
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  • 10. 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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  • 11. 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 11; 33(11):802-5. PubMed ID: 17073998
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  • 12. Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.
    Saito M, Masunaga T, Teraki Y, Takamori K, Ishiko A.
    J Dermatol Sci; 2008 Oct 11; 52(1):13-20. PubMed ID: 18440202
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  • 13. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.
    Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano AM, Barrandon Y, Uitto J, Goossens M.
    Nat Genet; 1993 Nov 11; 5(3):287-93. PubMed ID: 8275094
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  • 14. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
    von Bartenwerffer W, Has C, Arin MJ, Tantcheva-Poór I, Kreuter A, Kremer K, Arshah T, Hoffmann M, Eming SA, Kohlhase J, Krieg T, Bruckner-Tuderman L, Hartmann K.
    Eur J Dermatol; 2011 Nov 11; 21(2):170-2. PubMed ID: 21382783
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  • 15. A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.
    Gardella R, Barlati S, Zoppi N, Tadini G, Colombi M.
    Hum Mutat; 2000 Sep 11; 16(3):275. PubMed ID: 10980546
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  • 20. Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene.
    Gardella R, Zoppi N, Zambruno G, Barlati S, Colombi M.
    Br J Dermatol; 2002 Sep 11; 147(3):450-7. PubMed ID: 12207583
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