Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients

Journal of Investigative Dermatology

Volumn 134, Issue 1, 2014, Pages 273-276

  Bolling, Marieke C ^a   Jongbloed, Jan D H ^a   Boven, Ludolf G ^a   Diercks, Gilles F H ^a   Smith, Frances J D ^b   McLean, W H Irwin ^b   Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PLECTIN;

AUTOSOMAL DOMINANT INHERITANCE; BLISTER; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE; HAND; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; INTRON; LETTER; LOWER LEG; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; NETHERLANDS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLECTIN GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY;

EID: 84891017958     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.277     Document Type: Letter

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