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Journal Abstract Search

153 related items for PubMed ID: 9856844

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  • 3. Transient bullous dermolysis of the newborn in three generations.
    Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA.
    Br J Dermatol; 2005 Nov; 153(5):1058-63. PubMed ID: 16225626
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  • 6. 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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  • 9. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.
    Christiano AM, Fine JD, Uitto J.
    J Invest Dermatol; 1997 Dec; 109(6):811-4. PubMed ID: 9406826
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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. 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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  • 14. 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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  • 15. 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 01; 76(2):209-17. PubMed ID: 9042157
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  • 16. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
    Christiano AM, McGrath JA, Tan KC, Uitto J.
    Am J Hum Genet; 1996 Apr 01; 58(4):671-81. PubMed ID: 8644729
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  • 19. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
    Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J.
    J Invest Dermatol; 1996 Jan 01; 106(1):119-24. PubMed ID: 8592061
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