Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations

Journal of Investigative Dermatology

Volumn 113, Issue 3, 1999, Pages 314-321

  McGrath, John A ^a,d   Ashton, Gabrielle H S ^a   Mellerio, Jemima E ^a   Salas Alanis, Julio Cesar ^b   Swensson, Ole ^c   McMillan, James R ^a   Eady, Robin A J ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSIDAD AUTÓNOMA DE NUEVO LEÓN   (Mexico)

^c UNIVERSITY OF KIEL   (Germany)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Blister; Genodermatosis; Laminin 5; Type VII collagen

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE SEVERITY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; NONSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY;

EID: 0032836379     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00709.x     Document Type: Article

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