A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

New England Journal of Medicine

Volumn 345, Issue 16, 2001, Pages 1167-1175

  Schalkwijk, Joost ^a   Zweers, Manon C ^a   Steijlen, Peter M ^a   Dean, Willow B ^b   Taylor, Glen ^b   Van Vlijmen, Ivonne M ^a   Van Haren, Brigitte ^a   Miller, Walter L ^b   Bristow, James ^b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; TENASCIN; TENASCIN X; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; COLLAGEN METABOLISM; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PSORIASIS; RECESSIVE INHERITANCE; RHEUMATOID ARTHRITIS; SKIN FIBROBLAST; TENASCIN X DEFICIENCY;

ARTHRITIS, RHEUMATOID; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; GENE DELETION; GENES, RECESSIVE; HUMANS; MALE; PEDIGREE; POINT MUTATION; PSORIASIS; REFERENCE VALUES; SKIN; TENASCIN;

EID: 0035909658     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa002939     Document Type: Article

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