Autosomal dominant junctional epidermolysis bullosa

British Journal of Dermatology

Volumn 160, Issue 5, 2009, Pages 1094-1097

  Almaani, N ^a   Liu, L ^b   Dopping Hepenstal, P J C ^b   Lovell, P A ^b   Lai Cheong, J E ^a   Graham, R M ^c   Mellerio, J E ^a   McGrath, J A ^a,d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c JAMES PAGET UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

Blister; Inherited skin disease; Type XVII collagen

Indexed keywords

COLLAGEN TYPE 17; DNA; EPITOPE; GLYCINE;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLISTER; C.3514INS25 GENE; CASE REPORT; CHEMICAL STRUCTURE; CHILD; CHROMOSOME SUBSTITUTION; COL17A1 GENE; DERMIS; DISEASE ASSOCIATION; DNA MODIFICATION; DOMINANT GENE; EPIDERMIS; EPIDERMOLYSIS BULLOSA; EPIGENETICS; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOMICS; HETEROZYGOTE; HUMAN; HYPOPLASTIC DENTAL ENAMEL; IMMUNOFLUORESCENCE MICROSCOPY; MORPHOLOGY; MUTATION; MUTATIONAL ANALYSIS; NON HERLITZ JEB GENE; P.G627V GENE; PRIORITY JOURNAL; SCAR FORMATION; SCHOOL CHILD; SKIN BIOPSY; SKIN FRAGILITY; TOOTH DISEASE; TRANSMISSION ELECTRON MICROSCOPY; WILD TYPE;

AUTOANTIGENS; BLISTER; CHILD; DENTAL ENAMEL; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MICROSCOPY, FLUORESCENCE; NON-FIBRILLAR COLLAGENS; PEDIGREE;

EID: 64849093040     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08977.x     Document Type: Article

References (11)

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