Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

British Journal of Dermatology

Volumn 144, Issue 1, 2001, Pages 40-45

  Irvine, A D ^a,b   Rugg, E L ^b   Lane, E B ^c   Hoare, S ^d   Peret, C ^e   Hughes, A E ^f   Heagerty, A H ^g  

^a Hospital for Children NHS Trust   (United Kingdom)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d Glasgow Dental Hospital   (United Kingdom)

^e ROYAL FREE HOSPITAL   (United Kingdom)

^f QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^g Birmingham Heartlands/Solihull NHS   (United Kingdom)

Author keywords

Amino terminal; Epidermolysis bullosa simplex; Genodermatosis; Keratin; KRT5; Mottled pigmentation; Mutation

Indexed keywords

KERATIN;

AMINO TERMINAL SEQUENCE; ARTICLE; BLISTER; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE MUTATION; GENETIC ANALYSIS; GENODERMATOSIS; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN PIGMENTATION; SWEDEN;

ADOLESCENT; ADULT; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; CONSERVED SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; KERATINS; MALE; PEDIGREE; PHENOTYPE; PIGMENTATION DISORDERS; POINT MUTATION; SKIN;

EID: 0035122099     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2001.03950.x     Document Type: Article

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