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Molecular Mechanisms of Connective Tissue Abnormalities in the Ehlers-Danlos Syndrome

✍ Scribed by Peter H. Byers; Gregory S. Barsh; Karen A. Holbrook

Book ID
114178942
Publisher
Elsevier
Year
1981
Weight
982 KB
Volume
1
Category
Article
ISSN
0174-173X

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πŸ“œ SIMILAR VOLUMES

Molecular mechanisms of classical Ehlers
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)
✍ Anna L. Mitchell; Ulrike Schwarze; Jessica F. Jennings; Peter H. Byers πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 259 KB

Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hyperextensibility, and abnormal wound healing. The majority of affected individuals have alterations in 1 of the 2 type V collagen genes, COL5A1 and COL5A2. The most common mechanism is COL5A1