Life-long Course and Molecular Characterization of the Original Dutch Family with Epidermolysis Bullosa Simplex with Dystrophy due to a Homozygous Novel Plectin Point Mutation

Acta Dermato-Venereologica

Volumn 84, Issue 2, 2004, Pages 124-131

  Koss Harnes, Dörte ^a,h   Hoyheim B ^a,b   Jonkman, M F ^c   De Groot, W P ^d   De Weerdt, C J ^e   Nikolic, B ^f   Wiche, G ^f   Gedde Dahl Jr , T ^a,g  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b NORWEGIAN UNIVERSITY OF LIFE SCIENCES   (Norway)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d VU UNIVERSITY AMSTERDAM   (Netherlands)

^e Scheper Ziekenhuis   (Netherlands)

^f UNIVERSITY OF VIENNA   (Austria)

^g UNIVERSITY OF OSLO   (Norway)

^h OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

EBS MD; Genotype phenotype; Nonsense mutation; Plakins; PLEC1; Plectin

Indexed keywords

DNA; LINK PROTEIN; PLECTIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 8Q; CLINICAL FEATURE; DISEASE COURSE; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; FAMILIAL DISEASE; FIBROBLAST CULTURE; GENE LOCATION; GENETIC MARKER; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; LINKAGE ANALYSIS; MALE; MOLECULAR CLONING; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SKIN BIOPSY; WESTERN BLOTTING;

BASE SEQUENCE; BLOTTING, WESTERN; CHRONIC DISEASE; EPIDERMOLYSIS BULLOSA SIMPLEX; FLUORESCENT ANTIBODY TECHNIQUE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; NORWAY; PEDIGREE; PHENOTYPE; PLECTIN; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SAMPLING STUDIES; SEVERITY OF ILLNESS INDEX; SIBLINGS;

EID: 1942508218     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.1080/00015550310007094     Document Type: Article

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