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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
Author(s) -
Hamada T.,
Yasumoto S.,
Karashima T.,
Ishii N.,
Shimada H.,
Kawano Y.,
Imayama S.,
McGrath J.A.,
Hashimoto T.
Publication year - 2007
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2007.08086.x
Subject(s) - darier's disease , epidermolysis bullosa simplex , dermatology , darier disease , medicine , epidermolysis bullosa , mutation , disease , dyskeratosis , gene , pathology , biology , genetics , hyperkeratosis