Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

Journal of Investigative Dermatology

Volumn 108, Issue 2, 1997, Pages 220-223

  Smith, Frances J D ^a   Corden, Laura D ^a   Rugg, Elizabeth L ^a   Ratnavel, Ravi ^b   Leigh, Irene M ^b   Moss, Celia ^c   Tidman, Michael J ^d   Hohl, Daniel ^e   Huber, Marcel ^e   Kunkeler, Lia ^f   Munro, Colin S ^g   Lane, E Birgitte ^a   McLean, W H Irwin ^a,h  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b ROYAL LONDON HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f VU UNIVERSITY AMSTERDAM   (Netherlands)

^g SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Genodermatoses; Ka7; Nail dystrophy; PC 2

Indexed keywords

KERATIN;

ARTICLE; CLINICAL ARTICLE; ECTODERMAL DYSPLASIA; GENE MUTATION; HUMAN; NAIL DISEASE; PRIORITY JOURNAL; SEBACEOUS CYST;

EID: 8044227806     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12335315     Document Type: Article

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