A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency

American Journal of Pathology

Volumn 158, Issue 2, 2001, Pages 617-625

  Bauer, Johann W ^a,b   Rouan, Fatima ^d   Kofler, Barbara ^a,b   Rezniczek, Günther A ^e   Kornacker, Iris ^e   Muss, Wolfgang ^c   Hametner, Rudolf ^a   Klausegger, Alfred ^a   Huber, Ariana ^a   Pohla Gubo, Gabriele ^a   Wiche, Gerhard ^e   Uitto, Jouni ^d   Hintner, Helmut ^a  

^a Department of Dermatology ^*  (Austria)

^b Children's Hospital Salzburg   (Austria)

^c St Johanns Spital   (Austria)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; PLECTIN; RIBONUCLEASE;

ARTICLE; CASE REPORT; CHILD; COMORBIDITY; CONTROLLED STUDY; DERMOEPIDERMAL JUNCTION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; IN VITRO STUDY; KERATINOCYTE; MALE; MUSCULAR DYSTROPHY; NERVE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RIBONUCLEASE PROTECTION ASSAY; SKELETAL MUSCLE; STOP CODON; WESTERN BLOTTING;

EID: 0035134083     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)64003-5     Document Type: Article

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