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Journal Abstract Search

231 related items for PubMed ID: 21182502

  • 1. A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma.
    Huang L, Wong YP, Burd A.
    Int J Dermatol; 2011 Jan; 50(1):52-6. PubMed ID: 21182502
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  • 2. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
    Lin Y, Chen XJ, Liu W, Gong B, Xie J, Xiong JH, Cheng J, Duan XL, Lin ZC, Huang LL, Wan HY, Liu XQ, Song LH, Yang ZL.
    PLoS One; 2012 Jan; 7(11):e50579. PubMed ID: 23226319
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  • 3. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
    Ryoo YW, Kim BC, Lee KS.
    J Dermatol Sci; 2001 Jun; 26(2):125-32. PubMed ID: 11378329
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  • 4. 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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  • 10. Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa.
    Berthault C, Gaucher S, Gouin O, Schmitt A, Chen M, Woodley D, Titeux M, Hovnanian A, Izmiryan A.
    J Invest Dermatol; 2024 Jun; 144(6):1322-1333.e13. PubMed ID: 38043638
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  • 17. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.
    J Dermatol Sci; 2009 May; 54(2):114-20. PubMed ID: 19261445
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  • 18. One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
    Khaniani MS, Sohrabi N, Derakhshan NM, Derakhshan SM.
    Ann Clin Lab Sci; 2015 May; 45(5):582-4. PubMed ID: 26586712
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