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A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene
Author(s) -
Muramatsu S.,
Suga Y.,
Kon J.,
Matsuba S.,
Hashimoto Y.,
Ogawa H.
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 - 10.1111/j.1365-2133.2003.05803.x
Subject(s) - lamellar ichthyosis , ichthyosis , hyperkeratosis , missense mutation , acanthosis , compound heterozygosity , ichthyosis vulgaris , congenital ichthyosis , dyskeratosis , erythroderma , dermatology , medicine , pathology , phenotype , genetics , biology , gene , atopic dermatitis , filaggrin