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A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA. Groves RW, et al. Among authors: liu l. J Invest Dermatol. 2010 Jun;130(6):1551-7. doi: 10.1038/jid.2010.19. Epub 2010 Feb 18. J Invest Dermatol. 2010. PMID: 20164846 Free article.
Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Lai-Cheong JE, Liu L, Sethuraman G, Kumar R, Sharma VK, Reddy SR, Vahlquist A, Pather S, Arita K, Wessagowit V, McGrath JA. Lai-Cheong JE, et al. Among authors: liu l. J Invest Dermatol. 2007 Sep;127(9):2268-70. doi: 10.1038/sj.jid.5700830. Epub 2007 Apr 26. J Invest Dermatol. 2007. PMID: 17460733 Free article. No abstract available.
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, Pacy J, Elia G, Jeffery R, Leigh IM, Navsaria H, McGrath JA. Wong T, et al. Among authors: liu l. J Invest Dermatol. 2008 Sep;128(9):2179-89. doi: 10.1038/jid.2008.78. Epub 2008 Apr 3. J Invest Dermatol. 2008. PMID: 18385758 Free article. Clinical Trial.
Autosomal dominant junctional epidermolysis bullosa.
Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA. Almaani N, et al. Among authors: liu l. Br J Dermatol. 2009 May;160(5):1094-7. doi: 10.1111/j.1365-2133.2008.08977.x. Epub 2009 Dec 16. Br J Dermatol. 2009. PMID: 19120338
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA. Lai-Cheong JE, et al. Among authors: liu l. Br J Dermatol. 2009 Feb;160(2):233-42. doi: 10.1111/j.1365-2133.2008.08976.x. Epub 2008 Dec 11. Br J Dermatol. 2009. PMID: 19120339 Review.
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