Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys

Journal of Dermatology

Volumn 38, Issue 12, 2011, Pages 1177-1179

  Tsuruta, Daisuke ^a   Sowa, Junko ^b   Tateishi, Chiharu ^b   Obase, Yuko ^b   Tsubura, Airo ^c   Fukumoto, Takaya ^d   Ishii, Masamitsu ^b   Kobayashi, Hiromi ^b   Sakaguchi, Sachiko ^a   Hashimoto, Takashi ^a   Hamada, Takahiro ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c KANSAI MEDICAL UNIVERSITY   (Japan)

^d NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

epidermolysis bullosa simplex; intraepidermal epidermolysis bullosa; keratin; missense mutation; suprabasal epidermolysis bullosa

Indexed keywords

ANTIBIOTIC AGENT; CYTOKERATIN 1; CYTOKERATIN 10; CYTOKERATIN 14; CYTOKERATIN 5;

ACANTHOLYSIS; ACANTHOSIS; ADULT; ARTICLE; BASAL CELL; BLISTER; CASE REPORT; EPIDERMOLYSIS BULLOSA SIMPLEX; EROSION; GENE EXPRESSION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; MALE; MISSENSE MUTATION; NAIL DISEASE; PARAKERATOSIS; PUSTULE; SCAR FORMATION;

ADULT; AMINO ACID SUBSTITUTION; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE EXPRESSION; HUMANS; KERATIN-14; MALE; MUTATION, MISSENSE;

EID: 81855185568     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2011.01302.x     Document Type: Article

References (5)

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