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Journal Abstract Search

200 related items for PubMed ID: 7861014

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  • 4. 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; 292(4):159-63. PubMed ID: 10836608
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  • 5. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
    Christiano AM, Ryynänen M, Uitto J.
    Proc Natl Acad Sci U S A; 1994 Apr 26; 91(9):3549-53. PubMed ID: 8170945
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  • 7. 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 26; 139(4):730-7. PubMed ID: 9892921
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  • 9. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
    Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D.
    J Invest Dermatol; 1998 Nov 26; 111(5):744-50. PubMed ID: 9804332
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  • 13. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
    Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J.
    Hum Mol Genet; 1995 Sep 26; 4(9):1579-83. PubMed ID: 8541842
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  • 14. 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 26; 58(4):671-81. PubMed ID: 8644729
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  • 15. Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
    Cserhalmi-Friedman PB, Grossman J, Karpati S, Ahmad W, Horvath A, Christiano AM.
    Exp Dermatol; 1999 Apr 26; 8(2):143-5. PubMed ID: 10232407
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  • 17. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
    Christiano AM, Bart BJ, Epstein EH, Uitto J.
    J Invest Dermatol; 1996 Apr 26; 106(4):778-80. PubMed ID: 8618021
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  • 19. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
    Ryoo YW, Kim BC, Lee KS.
    J Dermatol Sci; 2001 Jun 26; 26(2):125-32. PubMed ID: 11378329
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  • 20. 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 26; 58(4):682-93. PubMed ID: 8644730
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