A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type

Journal of Investigative Dermatology

Volumn 126, Issue 1, 2006, Pages 79-84

  Richardson, Elizabeth S ^a   Lee, Jason B ^a   Hyde, Patricia H ^a   Richard, Gabriele ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 1; ETRETIN; UREA;

ADOLESCENT; ADULT; AFRICAN AMERICAN; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DNA POLYMORPHISM; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; ICHTHYOSIS; ICHTHYOSIS HYSTRIX CURTH MACKLIN; KERATOSIS PALMOPLANTARIS; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF; SKIN EXAMINATION; TREATMENT OUTCOME;

ADOLESCENT; ADULT; AFRICAN AMERICANS; AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; GLYCINE; HUMANS; KERATIN-1; KERATINS; KERATODERMA, PALMOPLANTAR, DIFFUSE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION;

EID: 33644769171     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700025     Document Type: Article

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