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25. 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; 21(2):170-2. PubMed ID: 21382783 [TBL] [Abstract][Full Text] [Related]
26. Passive transfer of autoantibodies from a patient with mutilating epidermolysis bullosa acquisita induces specific alterations in the skin of neonatal mice. Borradori L; Caldwell JB; Briggaman RA; Burr CE; Gammon WR; James WD; Yancey KB Arch Dermatol; 1995 May; 131(5):590-5. PubMed ID: 7741548 [TBL] [Abstract][Full Text] [Related]
27. Epidermolysis bullosa acquisita and associated symptomatic esophageal webs. Stewart MI; Woodley DT; Briggaman RA Arch Dermatol; 1991 Mar; 127(3):373-7. PubMed ID: 1998368 [TBL] [Abstract][Full Text] [Related]
28. Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa. Cutlar L; Greiser U; Wang W Exp Dermatol; 2014 Jan; 23(1):1-6. PubMed ID: 24107073 [TBL] [Abstract][Full Text] [Related]
29. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. Dunnill MG; McGrath JA; Richards AJ; Christiano AM; Uitto J; Pope FM; Eady RA J Invest Dermatol; 1996 Aug; 107(2):171-7. PubMed ID: 8757758 [TBL] [Abstract][Full Text] [Related]
30. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. McGrath JA; Ishida-Yamamoto A; O'Grady A; Leigh IM; Eady RA J Invest Dermatol; 1993 Apr; 100(4):366-72. PubMed ID: 8454899 [TBL] [Abstract][Full Text] [Related]
31. Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. Heinonen S; Männikkö M; Klement JF; Whitaker-Menezes D; Murphy GF; Uitto J J Cell Sci; 1999 Nov; 112 ( Pt 21)():3641-8. PubMed ID: 10523500 [TBL] [Abstract][Full Text] [Related]
32. Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model. Turczynski S; Titeux M; Tonasso L; Décha A; Ishida-Yamamoto A; Hovnanian A J Invest Dermatol; 2016 Dec; 136(12):2387-2395. PubMed ID: 27498345 [TBL] [Abstract][Full Text] [Related]
33. Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia. Bishnoi P; Ng YZ; Wei H; Tan EC; Lunny DP; Wong XFCC; Kin Fon L; Gondokaryono SP; Diana IA; Common JEA; Koh MJA; Lane EB Am J Med Genet A; 2021 Feb; 185(2):625-630. PubMed ID: 33258232 [TBL] [Abstract][Full Text] [Related]
34. A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - Implications for the pathogenesis of recessive dystrophic epidermolysis bullosa? Windler C; Hermsdorf U; Brinckmann J; Seeger K Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):52-59. PubMed ID: 27989960 [TBL] [Abstract][Full Text] [Related]
35. [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene]. Abdou A; Daoui L; Charlesworth A; Chiaverini C; Algros MP; Puzenat E; Chantegret C; Vabres P; Lacour JP; Aubin F Ann Dermatol Venereol; 2015 May; 142(5):346-9. PubMed ID: 25683012 [TBL] [Abstract][Full Text] [Related]
36. Diagnosis and disease severity assessment of epidermolysis bullosa acquisita by ELISA for anti-type VII collagen autoantibodies: an Italian multicentre study. Marzano AV; Cozzani E; Fanoni D; De Pità O; Vassallo C; Berti E; Parodi A; Crosti C; Cugno M Br J Dermatol; 2013 Jan; 168(1):80-4. PubMed ID: 22913489 [TBL] [Abstract][Full Text] [Related]
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