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

British Journal of Dermatology

Volumn 155, Issue 5, 2006, Pages 1062-1063

  Hattori, N ^a,b   Komine, M ^c   Kaneko, T ^a   Shimazu, K ^c   Tsunemi, Y ^c   Koizumi, M ^c   Goto, J ^c   Hashimoto, T ^d  

^a Fraternity Memorial Hospital Tokyo   (Japan)

^b Toshiba Hospital   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Epidermolysis bullosa simplex; Keratin 14; Keratin 5; Polymorphism

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5;

ARTICLE; BLISTER; BULLOUS SKIN DISEASE; CASE REPORT; DNA DETERMINATION; DNA POLYMORPHISM; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FILAMENT ASSEMBLY ANALYSIS; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KRT14 GENE; KRT5 GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN MOTIF; SCHOOL CHILD; SEQUENCE ANALYSIS;

AMINO ACID MOTIFS; CHILD; CONSERVED SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; KERATINS, TYPE I; MUTATION, MISSENSE; POLYMORPHISM, GENETIC;

EID: 33749830073     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07425.x     Document Type: Article

References (6)

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