Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1

Archives of Dermatology

Volumn 141, Issue 5, 2005, Pages 625-628

  Keren, Hannah ^a,b   Bergman, Reuven ^a,b   Mizrachi, Mordechai ^a,b   Kashi, Yechiezkel ^a,b   Sprecher, Eli ^a,b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOGLEIN 1; DESMOPLAKIN; ETRETINATE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL ADHESION; CHROMOSOME 18Q; DIAGNOSTIC APPROACH ROUTE; DSG1 GENE; EPIDERMIS; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATODERMA; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NONSENSE MUTATION; PRIORITY JOURNAL; SKIN BIOPSY;

ARGININE; CADHERINS; CHROMOSOMES, HUMAN, PAIR 18; CODON, NONSENSE; CODON, TERMINATOR; CYTOSINE; DESMOGLEIN 1; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; THYMINE;

EID: 18544367683     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.141.5.625     Document Type: Article

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