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Journal Abstract Search

276 related items for PubMed ID: 24533879

  • 1. Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.
    Jeon IK, Kim SE, Kim SC.
    J Dermatol; 2014 Apr; 41(4):350-1. PubMed ID: 24533879
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  • 3. A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.
    Suzuki S, Shimomura Y, Yamamoto Y, Kariya N, Shibuya M, Ito M, Fujiwara H.
    Br J Dermatol; 2006 Oct; 155(4):838-40. PubMed ID: 16965439
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  • 4. Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.
    Shaiq PA, Klausegger A, Bauer JW, Azam M, Raja GK, Qamar R.
    J Dermatol; 2012 May; 39(5):472-4. PubMed ID: 21967228
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  • 6. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N, Murrell DF.
    Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993
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  • 7. Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
    Masunaga T, Kubo A, Ishiko A.
    J Dermatol; 2018 Jun; 45(6):742-745. PubMed ID: 29500833
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  • 9. 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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  • 11. A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.
    Shinkuma S, Masunaga T, Miyawaki S, Takashima S, Natsuga K, Nomura T, Fujita Y, Nakamura H, Shimizu H.
    J Dermatol Sci; 2017 Oct; 88(1):139-141. PubMed ID: 28427821
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  • 13. 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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  • 16. Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
    Lee SH, Kim SE, Noh EB, Oh SW, Kim SC.
    J Dermatol; 2013 Jan; 40(1):59-61. PubMed ID: 22974128
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  • 17. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.
    Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H.
    Arch Dermatol Res; 2014 May; 306(4):405-11. PubMed ID: 24170138
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  • 18. A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
    Park J, Chae H, Kim M, Kim Y, Park IY, Shin JC, Park YM.
    Genet Mol Res; 2013 Mar 11; 12(1):678-82. PubMed ID: 23546949
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  • 19. Natural gene therapy in dystrophic epidermolysis bullosa.
    van den Akker PC, Nijenhuis M, Meijer G, Hofstra RM, Jonkman MF, Pasmooij AM.
    Arch Dermatol; 2012 Feb 11; 148(2):213-6. PubMed ID: 22004882
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  • 20. 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 11; 56(1):9-18. PubMed ID: 19665875
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