Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency

Multiplex ligation-dependent probe amplification (MLPA) identifies genetic structural variants in <i>SERPINC1</i> in 5% of cases with antithrombin deficiency (ATD), the most severe congenital thrombophilia. Our aim was to unravel the utility and limitations of MLPA in a large cohort of u...

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Bibliographic Details
Main Authors: Rosa Cifuentes, José Padilla, María Eugenia de la Morena-Barrio, Belén de la Morena-Barrio, Carlos Bravo-Pérez, Pedro Garrido-Rodríguez, María Llamas, Antonia Miñano, Vicente Vicente, María Luisa Lozano, Javier Corral
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
antithrombin deficiency
multiplex ligation-dependent probe amplification
structural variants
genetic variants
Online Access:https://www.mdpi.com/1422-0067/24/5/5023

Internet

https://www.mdpi.com/1422-0067/24/5/5023

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