Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma

Experimental Dermatology

Volumn 8, Issue 2, 1999, Pages 120-123

  McLean, W H Irwin ^a,e   Morley, S M ^a   Higgins, C ^b   Bowden, P E ^c   White, M ^d   Leigh, I M ^b   Lane, E B ^a  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d ABERDEEN ROYAL INFIRMARY   (United Kingdom)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Bullous congenital ichthyosiform erythroderma; Epidermolytic hyperkeratosis; Keratin 10; Mutation

Indexed keywords

DINUCLEOTIDE; KERATIN;

ADULTHOOD; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL INHERITANCE; BASAL CELL; BLISTER; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DNA SEQUENCE; DYSKERATOSIS; EPIDERMIS; ERYTHRODERMA; FAMILIAL INCIDENCE; GENE AMPLIFICATION; GENE MUTATION; GENODERMATOSIS; HUMAN; MISSENSE MUTATION; NEWBORN PERIOD; PEDIGREE; PHENOTYPE; RESTRICTION MAPPING; UNITED KINGDOM;

EID: 0032961012     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1999.tb00358.x     Document Type: Article

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