A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype

Experimental Dermatology

Volumn 13, Issue 5, 2004, Pages 332-334

  Liovic, M ^a,c   Bowden, P E ^b   Marks, R ^b   Komel, R ^a  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

EBS; Genodermatosis; Intermediate filament; Keratin

Indexed keywords

ASPARAGINE; KERATIN; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BASE MISPAIRING; BULLOUS SKIN DISEASE; CASE REPORT; CODON; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC CONSERVATION; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN MOTIF; RESTRICTION MAPPING;

ADULT; AMINO ACID MOTIFS; ASPARAGINE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HETEROZYGOTE; HUMANS; KERATIN-5; KERATINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SERINE;

EID: 2642542355     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0906-6705.2004.00171.x     Document Type: Article

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