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Journal Abstract Search

530 related items for PubMed ID: 9804332

  • 1.
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  • 2. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
    McGrath JA, Ashton GH, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RA.
    J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
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  • 4. 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. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
    Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.
    Am J Hum Genet; 1997 Sep; 61(3):599-610. PubMed ID: 9326325
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  • 8. 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 Sep; 21(2):170-2. PubMed ID: 21382783
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  • 9. Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
    Jonkman MF, Moreno G, Rouan F, Oranje AP, Pulkkinen L, Uitto J.
    J Invest Dermatol; 1999 May; 112(5):815-7. PubMed ID: 10233777
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  • 11. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
    Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J.
    Am J Hum Genet; 1996 Apr; 58(4):682-93. PubMed ID: 8644730
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  • 12. 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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  • 14. 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 01; 108(2):224-8. PubMed ID: 9008239
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  • 15. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
    Lee JY, Li C, Chao SC, Pulkkinen L, Uitto J.
    Arch Dermatol Res; 2000 Apr 01; 292(4):159-63. PubMed ID: 10836608
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  • 17. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
    Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H.
    J Dermatol Sci; 2004 May 01; 34(3):195-200. PubMed ID: 15113589
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  • 18. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
    Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J.
    J Invest Dermatol; 1995 Mar 01; 104(3):438-40. PubMed ID: 7861014
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  • 20. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
    Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L.
    J Invest Dermatol; 1998 Dec 01; 111(6):1214-9. PubMed ID: 9856844
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