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

Multiplex ligation-dependent probe amplification (MLPA) identifies genetic structural variants in SERPINC1 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 unrelated patients w...

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Detalles Bibliográficos
Autores principales: Cifuentes, Rosa, Padilla, José, de la Morena-Barrio, María Eugenia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Garrido-Rodríguez, Pedro, Llamas, María, Miñano, Antonia, Vicente, Vicente, Lozano, María Luisa, Corral, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002544/
https://www.ncbi.nlm.nih.gov/pubmed/36902454
http://dx.doi.org/10.3390/ijms24055023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002544/
https://www.ncbi.nlm.nih.gov/pubmed/36902454
http://dx.doi.org/10.3390/ijms24055023

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