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Journal Abstract Search


255 related items for PubMed ID: 16533235

  • 21. 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; 34(3):195-200. PubMed ID: 15113589
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  • 22. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.
    J Dermatol Sci; 2009 May; 54(2):114-20. PubMed ID: 19261445
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  • 23. [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
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  • 25. Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
    Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E, Schumann H, Has C, Gollnick H.
    Br J Dermatol; 2011 May; 164(5):1104-6. PubMed ID: 21275939
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  • 30. 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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  • 31. Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.
    Shaiq PA, Klausegger A, Bauer JW, Azam M, Raja GK, Qamar R.
    J Dermatol; 2012 May 11; 39(5):472-4. PubMed ID: 21967228
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  • 32. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.
    Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, García M, Del Río M, Torrelo A, González-Sarmiento R.
    Dermatology; 2010 May 11; 221(2):113-6. PubMed ID: 20523032
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  • 33. 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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  • 34. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
    Knöpfel N, Noguera-Morel L, Hernández-Martin A, García-Martin A, García M, Mencía Á, Pedrero RM, de Lucas R, Escámez MJ, Torrelo A.
    Pediatr Dermatol; 2018 Mar 11; 35(2):e94-e98. PubMed ID: 29272047
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  • 35. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
    Varki R, Sadowski S, Uitto J, Pfendner E.
    J Med Genet; 2007 Mar 11; 44(3):181-92. PubMed ID: 16971478
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  • 39. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
    Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L.
    Br J Dermatol; 2008 Aug 11; 159(2):464-9. PubMed ID: 18565177
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