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Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Hamada T, et al. Among authors: hashimoto t. J Invest Dermatol. 2003 Mar;120(3):345-50. doi: 10.1046/j.1523-1747.2003.12073.x. J Invest Dermatol. 2003. PMID: 12603844 Free article.
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Hamada T, et al. Among authors: hashimoto t. Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833. Hum Mol Genet. 2002. PMID: 11929856
De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis.
Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, McLean WH, Hashimoto T. Hamada T, et al. Among authors: hashimoto t. J Invest Dermatol. 2008 May;128(5):1323-5. doi: 10.1038/sj.jid.5701164. Epub 2007 Nov 15. J Invest Dermatol. 2008. PMID: 18007582 Free article. No abstract available.
7,019 results