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Journal Abstract Search

265 related items for PubMed ID: 22209565

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  • 3. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
    Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA.
    Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
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  • 4. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
    von Bartenwerffer W, Has C, Arin MJ, Tantcheva-Poór I, Kreuter A, Kremer K, Arshah T, Hoffmann M, Eming SA, Kohlhase J, Krieg T, Bruckner-Tuderman L, Hartmann K.
    Eur J Dermatol; 2011 May; 21(2):170-2. PubMed ID: 21382783
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  • 9. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.
    J Dermatol Sci; 2009 Oct; 56(1):9-18. PubMed ID: 19665875
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  • 12. 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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  • 13. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
    Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M.
    Br J Dermatol; 2010 Jul; 163(1):155-61. PubMed ID: 20184583
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  • 14. Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
    Jerábková B, Kopecková L, Bucková H, Veselý K, Valícková J, Fajkusová L.
    J Dermatol Sci; 2010 Aug; 59(2):136-40. PubMed ID: 20598510
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  • 17. 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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  • 18. Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
    Hamada T, Fukuda S, Ishii N, Sakaguchi S, Ishikawa T, Abe T, Yasumoto S, Hashimoto T, Nakano H, Sawamura D.
    J Dermatol Sci; 2008 May; 50(2):147-50. PubMed ID: 18207370
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  • 19. 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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  • 20. 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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