Genomic amplification of the human Plakophilin 1 Gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

Journal of Investigative Dermatology

Volumn 115, Issue 3, 2000, Pages 368-374

  Whittock, Neil V ^a   Haftek, Marek ^b   Angoulvant, Nathalie ^c   Wolf, François ^c   Perrot, Henri ^c   Eady, Robin A J ^a   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b INSERM   (France)

^c Antiquaille Hospital   (France)

Author keywords

Cell adhesion; Desmosome; Genodermatosis; Keratinocyte

Indexed keywords

PLAKOPHILIN 1; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANTIBODY LABELING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL ADHESION; DESMOSOME; ECTODERMAL DYSPLASIA; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RASH; SCANTY HAIR; SKIN BIOPSY;

EID: 0033832770     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00082.x     Document Type: Article

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