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Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT 1
Author(s) -
Nellen Ruud G. L.,
Nagtzaam Ivo F.,
Hoogeboom A. Jeannette M.,
Bladergroen Reno S.,
Jonkman Marcel F.,
Steijlen Peter M.,
Steensel Maurice A. M.,
Geel Michel
Publication year - 2015
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.12786
Subject(s) - phenotype , mutation , genetics , dermatology , ichthyosis , palmoplantar keratoderma , medicine , biology , hyperkeratosis , gene
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