A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 116, Issue 1, 2001, Pages 182-187

  Ruzzi, Laura ^e   Pas, Hendri ^a   Posteraro, Patrizia ^e   Mazzanti, Cinzia ^b   Didona, Biagio ^b   Owaribe, Katsushi ^c   Meneguzzi, Guerrino ^d   Zambruno, Giovanna ^e   Castiglia, Daniele ^e   D'alessio, Marina ^e  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c NAGOYA UNIVERSITY   (Japan)

^d INSERM   (France)

^e NONE

Author keywords

Alternative splicing; COL17A1; Non Herlitz junctional epidermolysis bullosa; Nonsense mutation; Recurrent mutation

Indexed keywords

COLLAGEN TYPE 17; COMPLEMENTARY DNA; RNA;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BASEMENT MEMBRANE; CLINICAL ARTICLE; CODON; COLLAGEN SYNTHESIS; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; KERATINOCYTE; MALE; NONSENSE MUTATION; PRIORITY JOURNAL;

EID: 0035132809     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2001.00229.x     Document Type: Article

References (30)

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