Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes

INTRODUCTION: 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 relativ...

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Enregistré dans:
Détails bibliographiques
Publié dans:Haemophilia
Auteurs principaux: Fager Ferrari, Marcus, Zetterberg, Eva, Rossing, Maria, Manon‐Jensen, Tina, Pehrsson, Martin, Karsdal, Morten A., Lykkesfeldt, Jens, Leinoe, Eva
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7894344/
https://ncbi.nlm.nih.gov/pubmed/33161638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/hae.14195
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