Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 130, Issue 11, 2010, Pages 2680-2683

  Hobbs, Ryan P ^a   Han, Sandra Y ^a   Van Der Zwaag, Paul A ^b   Bolling, Marieke C ^b   Jongbloed, Jan D H ^b   Jonkman, Marcel F ^b   Getsios, Spiro ^a   Paller, Amy S ^a   Green, Kathleen J ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; DESMOPLAKIN; GENOMIC DNA; PLAKOGLOBIN; UVOMORULIN;

ACANTHOLYSIS; ALOPECIA; CASE REPORT; CELL ADHESION; CHEMICAL ANALYSIS; CONSANGUINITY; DESMOSOME; DNA ISOLATION; DNA SEQUENCE; ECHOCARDIOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; KERATINOCYTE; LETTER; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THORAX RADIOGRAPHY; TOXIC EPIDERMAL NECROLYSIS;

EID: 77957961200     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.189     Document Type: Letter

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