A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.
<h4>Background</h4>The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2). M...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Public Library of Science (PLoS)
2011
|
| Subjects: | |
| Online Access: | https://doaj.org/article/47c3e27d4c804ff8b5b826fc10e437e8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|