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Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
Hamada T, Fukuda S, Ishii N, Sakaguchi S, Ishikawa T, Abe T, Yasumoto S, Hashimoto T, Nakano H, Sawamura D. Hamada T, et al. Among authors: sakaguchi s. J Dermatol Sci. 2008 May;50(2):147-50. doi: 10.1016/j.jdermsci.2007.12.005. Epub 2008 Jan 22. J Dermatol Sci. 2008. PMID: 18207370 No abstract available.
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.
Fukuda S, Hamada T, Ishii N, Sakaguchi S, Sakai K, Akiyama M, Shimizu H, Masuda K, Izu K, Teye K, Tsuruta D, Karashima T, Nakama T, Yasumoto S, Hashimoto T. Fukuda S, et al. Among authors: sakaguchi s. Br J Dermatol. 2012 Jan;166(1):218-21. doi: 10.1111/j.1365-2133.2011.10516.x. Epub 2011 Sep 29. Br J Dermatol. 2012. PMID: 21729033 No abstract available.
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: sakaguchi s. 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.
1,222 results