Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

Genes and Development

Volumn 10, Issue 14, 1996, Pages 1724-1735

  Irwin McLean, W H ^a   Pulkkinen, Leena ^b,g   Smith, Frances J D ^a   Rugg, Elizabeth L ^a   Lane, E Birgitte ^a   Bullrich, Florencia ^b   Burgeson, Robert E ^c   Amano, Satoshi ^c   Hudson, David L ^c   Owaribe, Katsushi ^d   McGrath, John A ^e   McMillan, James R ^e   Eady, Robin A J ^e   Leigh, Irene M ^f   Christiano, Angela M ^b   Uitto, Jouni ^b  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d NAGOYA UNIVERSITY   (Japan)

^e ST THOMAS HOSPITAL   (United Kingdom)

^f ROYAL LONDON HOSPITAL   (United Kingdom)

^g KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

cytoskeleton; epidermolysis bullosa; hemidesmosome; MD EBS; muscular dystrophy; Plectin

Indexed keywords

DYSTROPHIN; PROTEIN;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME MAP; DNA FLANKING REGION; EPIDERMOLYSIS BULLOSA; EXON; GENE SEQUENCE; GENETIC ORGANIZATION; GENETIC POLYMORPHISM; HEMIDESMOSOME; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; MALE; MOLECULAR CLONING; MUSCULAR DYSTROPHY; MYOPATHY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN ANALYSIS;

EID: 9444272226     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.10.14.1724     Document Type: Article

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