Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: Analysis of a family and review of the literature

British Journal of Dermatology

Volumn 154, Issue 1, 2006, Pages 167-171

  Gedicke, M M ^a,b,c   Traupe, H ^d   Fischer, B ^c   Tinschert, S ^b,e   Hennies, H C ^a,c  

^a UNIVERSITY OF COLOGNE   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d UNIVERSITY OF MÜNSTER   (Germany)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Loricrin; Loricrin keratoderma; Mutilating keratoderma; Vohwinkel syndrome

Indexed keywords

AMINO ACID; LORICRIN;

ALLELE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; ICHTHYOSIS; KERATOSIS PALMOPLANTARIS; PRIORITY JOURNAL; REVIEW; WILD TYPE;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; KERATODERMA, PALMOPLANTAR; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SKIN DISEASES, GENETIC;

EID: 33644922695     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06995.x     Document Type: Review

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