Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene

Journal of Dermatological Science

Volumn 45, Issue 3, 2007, Pages 161-166

  Barber, Alison G ^a   Wajid, Muhammad ^a   Columbo, Morgana ^a   Lubetkin, Jillian ^a   Christiano, Angela M ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Cell adhesion; Desmoglein 1; Desmosome; Palmoplantar keratoderma; Splice site mutation

Indexed keywords

DESMOGLEIN 1;

ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; KERATOSIS PALMOPLANTARIS; PRIORITY JOURNAL; RNA SPLICING;

DESMOGLEIN 1; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; PEDIGREE; RNA SPLICE SITES;

EID: 33846798366     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2006.11.013     Document Type: Article

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