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A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation
Author(s) -
Hattori N.,
Komine M.,
Kaneko T.,
Shimazu K.,
Tsunemi Y.,
Koizumi M.,
Goto J.,
Hashimoto T.
Publication year - 2006
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.1365-2133.2006.07425.x
Subject(s) - epidermolysis bullosa simplex , proband , missense mutation , genodermatosis , epidermolysis bullosa , pathology , medicine , dermatology , eosinophilic , papillary dermis , skin biopsy , dermis , biopsy , genetics , biology , gene , mutation