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A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens
Author(s) -
Nishizawa A.,
Toyomaki Y.,
Nakano A.,
Takeuchi S.,
Matsuzaki Y.,
Takeda H.,
Kaneko T.,
Mitsuhashi Y.,
Nakano H.
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.1365-2133.2007.07832.x
Subject(s) - epidermolytic hyperkeratosis , missense mutation , hyperkeratosis , ichthyosis , erythroderma , keratin , dermatology , genetics , gene mutation , mutation , medicine , biology , pathology , gene