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The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation
Author(s) -
Hamada T.,
Ishii N.,
Kawano Y.,
Takahashi Y.,
Inoue M.,
Yasumoto S.,
Hashimoto T.
Publication year - 2004
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 - 10.1046/j.1365-2133.2004.05820.x
Subject(s) - epidermolysis bullosa simplex , keratin 5 , biology , missense mutation , keratin 14 , keratin 6a , genodermatosis , epidermolysis bullosa , keratin , pathology , dyskeratosis , melanosome , mutation , intermediate filament , genetics , dermatology , hyperkeratosis , medicine , gene , cytoskeleton , cell , melanin , transgene , genetically modified mouse