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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 [No Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]