Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin

Journal of Investigative Dermatology

Volumn 126, Issue 3, 2006, Pages 607-613

  Terron Kwiatkowski, Ana ^a   Van Steensel, Maurice A M ^b   Van Geel, Michel ^b   Lane, E Birgitte ^c   McLean, W H Irwin ^a   Steijlen, Peter M ^b  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN;

ARTICLE; CONTROLLED STUDY; CYTOPLASM; FAMILY STUDY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HUMAN TISSUE; KERATOSIS PALMOPLANTARIS; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN STRUCTURE; SKIN BIOPSY; ULTRASTRUCTURE;

HUMANS; KERATIN-1; KERATINS; KERATODERMA, PALMOPLANTAR; MICROSCOPY, ELECTRON; MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 32844468660     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700152     Document Type: Article

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