Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

• Published in: American journal of human genetics Vol. 71; no. 3; pp. 451 - 465
• Main Authors: Takahara, Kazuhiko, Schwarze, Ulrike, Imamura, Yasutada, Hoffman, Guy G., Toriello, Helga, Smith, Lynne T., Byers, Peter H., Greenspan, Daniel S.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 2002; University of Chicago Press; The American Society of Human Genetics
• Subjects: Biological and medical sciences; Medical sciences; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Human; Skin disease; Elastic tissue disease; Transcription; Pathogenesis; Diseases of the osteoarticular system; Clinical form; Genetic determinism; Genetic disease; Case study; Gene; Intron; Collagen; Ehlers Danlos syndrome; Systemic disease; Mutation

Ehlers-Danlos syndrome (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connective-tissue disorder. Mutations in the COL5A1 and COL5A2 genes, which encode type V collagen, have been identified in several individuals. Most mutations affect either the triple-he...