A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

Journal of Clinical Investigation

Volumn 98, Issue 10, 1996, Pages 2196-2200

  Chavanas, Stéphane ^a   Pulkkinen, Leena ^c   Gache, Yannick ^a   Smith, Frances J D ^d   McLean, W H Irwin ^d   Uitto, Jouni ^c   Ortonne, Jean Paul ^a,b   Meneguzzi, Guerrino ^a  

^a INSERM   (France)

^b PASTEUR HOSPITAL   (France)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

cytoskeleton; epidermolysis bullosa; hemidesmosome; muscular dystrophy; plectin

Indexed keywords

KERATIN; MESSENGER RNA;

ARTICLE; CONTROLLED STUDY; CYTOSKELETON; DESMOSOME; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA; HUMAN; HUMAN TISSUE; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STOP CODON;

EID: 0029811246     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119028     Document Type: Article

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