Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods
| Autor: | Francisco Vidal, Juan L. García-Hernández, Vicente Vicente, María Eugenia de la Morena-Barrio, Agustín Rodriguez-Alén, José Padilla, Noelia Rollón, Antonia Miñano, Carlos Bravo-Pérez, Nina Borràs, Belén de la Morena-Barrio, Javier Corral |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Antithrombin III Deficiency Sequence analysis Antithrombin III Molecular Diagnostic Method Intron Sequence Analysis DNA Hematology Computational biology Biology Polymerase Chain Reaction Antithrombin deficiency Pedigree law.invention chemistry.chemical_compound Molecular Diagnostic Techniques chemistry law Humans Molecular diagnostic techniques Female Identification (biology) Polymerase chain reaction DNA Sequence Deletion |
| Zdroj: | British Journal of Haematology. 186 |
| ISSN: | 1365-2141 0007-1048 |
| Databáze: | OpenAIRE |
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