Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy

Journal of Investigative Dermatology

Volumn 114, Issue 2, 2000, Pages 381-387

  Rouan, Fatima ^a   Pulkkinen, Leena ^a   Meneguzzi, Guerrino ^b   Laforgia, Sal ^a   Hyde, Patrice ^a   Kim, Dae Un ^c   Richard, Gabriele ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b INSERM   (France)

^c SAINT BARNABAS MEDICAL CENTER   (United States)

Author keywords

Genodermatoses; Hemidesmosomes; Mutation analysis

Indexed keywords

PLECTIN;

ADULT; ARTICLE; CODON; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE DELETION; HEMIDESMOSOME; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MUSCULAR DYSTROPHY; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DEFICIENCY; PROTEIN DOMAIN;

EID: 0034083857     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00880.x     Document Type: Article

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