The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure
✍ Scribed by Cecilia Giunta; Céline Chambaz; Marina Pedemonte; Sara Scapolan; Beat Steinmann
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 345 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). We identified seven additional famil
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