Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

Journal of Investigative Dermatology

Volumn 108, Issue 3, 1997, Pages 241-247

  Smith, Lynne T ^a   Schwarze, Ulrike ^a   Goldstein, Jayne ^a   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

collagen synthesis; fibrillogenesis; fibroblast; perivascular matrix; type III collagen

Indexed keywords

COLLAGEN TYPE 3; PROCOLLAGEN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOLOGY; EHLERS DANLOS SYNDROME; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MICROSCOPY; POINT MUTATION; PRIORITY JOURNAL; SCANNING ELECTRON MICROSCOPY; SKIN BIOPSY;

EID: 0031050915     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12286441     Document Type: Article

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