A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

British Journal of Dermatology

Volumn 162, Issue 4, 2010, Pages 875-879

  Bolling, M C ^a   Bladergroen, R S ^b   Van Steensel, M A M ^b   Willemsen, M ^b   Jonkman, M F ^a   Van Geel, M ^b  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Epidermolytic ichthyosis; Genodermatosis; KRT1; Mutation; Transfection

Indexed keywords

CYTOKERATIN 1;

ARTICLE; EPIDERMOLYTIC HYPERKERATOSIS; EPIDERMOLYTIC ICHTHYOSIS; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; FAMILIAL DISEASE; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; HUMAN CELL; KERATINOCYTE; MISSENSE MUTATION; MUTANT; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; RISK FACTOR; TONOFILAMENT; WILD TYPE; CHROMOSOME MAP; FEMALE; GENETICS; MALE; NETHERLANDS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE;

CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; KERATIN-1; MALE; MUTATION, MISSENSE; NETHERLANDS; PEDIGREE; PHENOTYPE;

EID: 77949845654     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09617.x     Document Type: Article

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