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Variants in collagen‐related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers‐Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with… Click to show full abstract
Variants in collagen‐related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers‐Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VUS) in one of these genes, the vast majority without meeting the clinical criteria for EDS.
Keywords:
collagen;
collagen related;
collagen remodelling;
variants collagen;
related genes;
remodelling plasma
Journal Title: Haemophilia
Year Published: 2020
Link to full text (if available)
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Journal Title: Haemophilia
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!