| Autor: |
De la Morena‐Barrio, Belén, Borràs, Nina, Rodríguez‐Alén, Agustín, Morena‐Barrio, María E., García‐Hernández, Juan L., Padilla, José, Bravo‐Pérez, Carlos, Miñano, Antonia, Rollón, Noelia, Corral, Javier, Vidal, Francisco, Vicente, Vicente |
| Předmět: |
|
| Zdroj: |
British Journal of Haematology; Aug2019, Vol. 186 Issue 4, pe82-e86, 5p, 1 Chart, 1 Graph |
| Abstrakt: |
The article discusses a 2019 study on identifying the first large intronic deletion responsible of type I antithrombin deficiency. Topics covered include a search for new gene encoding antithrombin SERPINC1 defects by alternative methods like long-range polymerase chain reaction (LR-PCR) combined with next-generation sequencing (NGS), and the need to validate NGS data by Sanger sequencing for defects. Also noted is the method's ability to identify gene variations in antithrombin deficiency. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
Plný text