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2. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. Dang N, Klingberg S, Marr P, Murrell DF. J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959 [Abstract] [Full Text] [Related]
3. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L. Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141 [Abstract] [Full Text] [Related]
5. Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance. Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H. Br J Dermatol; 2006 Oct; 155(4):834-7. PubMed ID: 16965438 [No Abstract] [Full Text] [Related]
10. 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 [Abstract] [Full Text] [Related]
11. 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 May; 26(1):115-7. PubMed ID: 19250433 [Abstract] [Full Text] [Related]
12. 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 [No Abstract] [Full Text] [Related]
13. 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]
14. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. Garcia M, Escamez MJ, Cuadrado-Corrales N, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M. Hum Genet; 2009 Aug; 126(2):334-5. PubMed ID: 19694004 [No Abstract] [Full Text] [Related]