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COL7A1 mutation G2037E causes epidermal retention of type VII collagen.
Sawamura D, Sato-Matsumura K, Shibata S, Tashiro A, Furue M, Goto M, Sakai K, Akiyama M, Nakamura H, Shimizu H. Sawamura D, et al. Among authors: shimizu h. J Hum Genet. 2006;51(5):418-423. doi: 10.1007/s10038-006-0378-5. Epub 2006 Mar 24. J Hum Genet. 2006. PMID: 16557343 Free article.
Exclusion of COL7A1 mutation in Kindler syndrome.
Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H. Yasukawa K, et al. Among authors: shimizu h. J Am Acad Dermatol. 2002 Mar;46(3):447-50. doi: 10.1067/mjd.2002.117523. J Am Acad Dermatol. 2002. PMID: 11862187
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H. Sawamura D, et al. Among authors: shimizu h. J Hum Genet. 2005;50(10):543-546. doi: 10.1007/s10038-005-0290-4. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189623 Free article.
Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients.
Goto M, Sawamura D, Nishie W, Sakai K, McMillan JR, Akiyama M, Shimizu H. Goto M, et al. Among authors: shimizu h. J Invest Dermatol. 2006 Dec;126(12):2614-20. doi: 10.1038/sj.jid.5700435. Epub 2006 Jun 15. J Invest Dermatol. 2006. PMID: 16778792 Free article.
Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H. Ito K, et al. Among authors: shimizu h. Am J Pathol. 2009 Dec;175(6):2508-17. doi: 10.2353/ajpath.2009.090347. Epub 2009 Nov 5. Am J Pathol. 2009. PMID: 19893033 Free PMC article.
6,351 results