Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/ Type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 108, Issue 4, 1997, Pages 463-468

  Darling, Thomas N ^a   McGrath, John A ^b,c   Yee, Carole ^a   Gatalica, Biljana ^b   Hametner, Rudolf ^d   Bauer, Johann W ^d   Pohla Gubo, Gabriele ^d   Christiano, Angela M ^b   Uitto, Jouni ^b   Hintner, Helmut ^d   Yancey, Kim B ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d St Johanns Spital   (Austria)

Author keywords

basement membrane; COL17A1; hemidesmosomes; heritable blistering diseases; mutation

Indexed keywords

ANTIGEN; MESSENGER RNA;

ALLELE; ARTICLE; BASEMENT MEMBRANE; CLINICAL ARTICLE; EPIDERMOLYSIS BULLOSA; GENETIC ANALYSIS; HEMIDESMOSOME; HUMAN; HUMAN CELL; KERATINOCYTE; MUTATION; PRIORITY JOURNAL; STOP CODON;

EID: 8244226653     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12289718     Document Type: Article

References (27)

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