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Journal Abstract Search


312 related items for PubMed ID: 16634910

  • 1. 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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  • 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
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  • 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
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  • 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
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  • 7. 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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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 17. 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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