Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene

Journal of Investigative Dermatology

Volumn 123, Issue 4, 2004, Pages 656-663

  Colige, Alain ^a,h   Nuytinck, Lieve ^b   Hausser, Ingrid ^c   Van Essen, Anthonie J ^d   Thiry, Marc ^a   Herens, Christian ^a   Adès, Lesley C ^e   Malfait, Fransiska ^b   De Paepe, Anne ^b   Franck, Peter ^f   Wolff, Gerhard ^f   Oosterwijk, Jan C ^d   Smitt, J H Sillevis ^g   Lapière, Charles M ^a   Nusgens, Betty V ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF SYDNEY   (Australia)

^f UNIVERSITY OF FREIBURG   (Germany)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h Tour de Pathologie   (Belgium)

Author keywords

ADAMTS2; Dermatosparaxis; Ehlers Danlos Syndrome; Genetic skin disease; Procollagen peptidase

Indexed keywords

MESSENGER RNA; PROCOLLAGEN 1; PROCOLLAGEN 2; PROCOLLAGEN 3; PROCOLLAGENASE; UNCLASSIFIED DRUG;

ADAMTS2 GENE; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DERMATOSPARAXIS; DISEASE SEVERITY; DNA SEQUENCE; EHLERS DANLOS SYNDROME; ENZYME MECHANISM; EXON; GENE ACTIVITY; GENE DELETION; GENE FUNCTION; GENE INACTIVATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SKIN MANIFESTATION; STOP CODON;

EID: 4644297498     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23406.x     Document Type: Article

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