A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

British Journal of Dermatology

Volumn 143, Issue 3, 2000, Pages 621-627

  Batta, K ^a   Rugg, E L ^b   Wilson, N J ^b   West, N ^c   Goodyear, H ^c   Lane, E B ^b   Gratian, M ^d   Dopping Hepenstal, P ^d   Moss, C ^a   Eady, R A J ^d  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Epidermolysis bullosa simplex; Keratin 14; Knockout mutation

Indexed keywords

KERATIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BASAL CELL; BULLOUS SKIN DISEASE; CASE REPORT; CODON; CONSANGUINEOUS MARRIAGE; CYTOSKELETON; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; GENE MUTATION; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; KERATINOCYTE; KNOCKOUT GENE; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY; STOP CODON;

CONSANGUINITY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INFANT; KERATIN-14; KERATINS; MALE; MICROSCOPY, ELECTRON; MICROSCOPY, FLUORESCENCE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 0033800831     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03722.x     Document Type: Article

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