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PUBMED FOR HANDHELDS

Journal Abstract Search


312 related items for PubMed ID: 19694003

  • 1. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
    Hum Genet; 2009 Aug; 126(2):334. PubMed ID: 19694003
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  • 3. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
    Hum Genet; 2009 Aug; 126(2):335. PubMed ID: 19694005
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  • 7. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    García M, Escamez MJ, Cuadrado-Corrales N, Illera N, Sánchez Jimeno C, Vélez C, Trujillo-Tiebas MJ, Ayuso C, Del Río M.
    Hum Genet; 2010 Jan; 127(1):120-1. PubMed ID: 20108398
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  • 12. A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.
    Sawamura D, Nizeki H, Miyagawa S, Shinkuma S, Shimizu H.
    Br J Dermatol; 2006 May; 154(5):995-7. PubMed ID: 16634910
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  • 13. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
    Chuang GS, Martinez-Mir A, Yu HS, Sung FY, Chuang RY, Cserhalmi-Friedman PB, Christiano AM.
    Clin Exp Dermatol; 2004 May; 29(3):304-7. PubMed ID: 15115517
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  • 14. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
    Massé M, Cserhalmi-Friedman PB, Falanga V, Celebi JT, Martinez-Mir A, Christiano AM.
    Clin Exp Dermatol; 2005 May; 30(3):289-93. PubMed ID: 15807692
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  • 16. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
    Ishiko A, Masunaga T, Ota T, Nishikawa T.
    Exp Dermatol; 2004 Apr; 13(4):229-33. PubMed ID: 15086338
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  • 19. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
    Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H.
    Pediatr Dermatol; 2009 Apr; 26(1):115-7. PubMed ID: 19250433
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  • 20. Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
    Rodríguez FA, Gana MJ, Yubero MJ, Zillmann G, Krämer SM, Catalán J, Rubio-Astudillo J, González S, Liu L, Ozoemena L, Mellerio JE, McGrath JA, Palisson F, Conget P.
    J Dermatol Sci; 2012 Feb; 65(2):149-52. PubMed ID: 22209565
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