Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Aortic aneurysms, which may dissect or rupture acutely and be lethal, can be a part of multisystem disorders that have a heritable basis. We report four patients with deficiency of selenocysteine-containing proteins due to selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2) mutations who...

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Detalles Bibliográficos
Autores principales: Schoenmakers, Erik, Marelli, Federica, Jørgensen, Helle F., Visser, W. Edward, Moran, Carla, Groeneweg, Stefan, Avalos, Carolina, Jurgens, Sean J., Figg, Nichola, Finigan, Alison, Wali, Neha, Agostini, Maura, Wardle-Jones, Hannah, Lyons, Greta, Rusk, Rosemary, Gopalan, Deepa, Twiss, Philip, Visser, Jacob J., Goddard, Martin, Nashef, Samer A. M., Heijmen, Robin, Clift, Paul, Sinha, Sanjay, Pirruccello, James P., Ellinor, Patrick T., Busch-Nentwich, Elisabeth M., Ramirez-Solis, Ramiro, Murphy, Michael P., Persani, Luca, Bennett, Martin, Chatterjee, Krishna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693596/
https://www.ncbi.nlm.nih.gov/pubmed/38042913
http://dx.doi.org/10.1038/s41467-023-43851-6

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