Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1

American Journal of Human Genetics

Volumn 64, Issue 3, 1999, Pages 732-738

  Sybert, Virginia P ^a,b   Francis, Julie S ^a,b   Corden, Laura D ^c   Smith, Lynne T ^a   Weaver, Molly ^a   Stephens, Karen ^a   McLean, Irwin W H ^d  

^a UNIVERSITY OF WASHINGTON   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HYPERKERATOSIS; IMMUNOFLUORESCENCE MICROSCOPY; KERATINOCYTE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033361793     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302278     Document Type: Article

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