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Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.
Hamada T, Yasumoto S, Karashima T, Ishii N, Shimada H, Kawano Y, Imayama S, McGrath JA, Hashimoto T. Hamada T, et al. Among authors: mcgrath ja. Br J Dermatol. 2007 Sep;157(3):605-8. doi: 10.1111/j.1365-2133.2007.08086.x. Epub 2007 Jul 16. Br J Dermatol. 2007. PMID: 17635506 No abstract available.
Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa.
Shimizu H, Takizawa Y, McGrath JA, Pulkkinen L, Christiano AM, Uitto J, Burgeson RE, Iwatsuki K, Niimi N, Noguchi M, Imayama S, Abe Y, Shirakata Y, Hagiwara S, Saida T, Ogawa H, Hashimoto I, Nishikawa T. Shimizu H, et al. Among authors: mcgrath ja. Arch Dermatol Res. 1997 Feb;289(3):174-6. doi: 10.1007/s004030050175. Arch Dermatol Res. 1997. PMID: 9128767 No abstract available.
691 results