Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients
Autor: | Maria Luisa Lozano, Ana Zamora-Cánovas, Belen De La Morena-Barrio, Cristina Sierra, Christoph Male, Jose Padilla, Maria Eugenia de la Morena-Barrio, Veronica Palma-Barqueros, Ana Sánchez-Fuentes, Agustín Rodriguez-Alen, Ana Marín-Quílez, Nuria Revilla Calvo, Vicente Vicente, Jose Maria Bastida, Javier Corral, Jose Rivera Pozo |
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Rok vydání: | 2022 |
Předmět: | |
Zdroj: | Blood. 140:2695-2696 |
ISSN: | 1528-0020 0006-4971 |
Databáze: | OpenAIRE |
Externí odkaz: |