Defects of splicing in antithrombin deficiency

ESSENTIALS: Increasing evidences supports a role for splicing defects in multiple disorders. For antithrombin (AT) deficiency only 7% of mutations disturb intronic splicing sequences. Our study of 141 unrelated cases with AT deficiency found higher rate of splicing defects (>13%). A wide range of...

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Dettagli Bibliografici
Pubblicato in:Res Pract Thromb Haemost
Autori principali: de la Morena‐Barrio, María E., López‐Gálvez, Raquel, Martínez‐Martínez, Irene, Asenjo, Susana, Sevivas, Teresa S., López, María F., Wypasek, Ewa, Entrena, Laura, Vicente, Vicente, Corral, Javier
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2017
Soggetti:
Original Articles: Thrombosis
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6058262/
https://ncbi.nlm.nih.gov/pubmed/30046692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/rth2.12025
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