A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndr...

by Alessandro Liquori, Iván Lesende, Laura Palomo, Gayane Avetisyan, Mariam Ibáñez, Elisa González-Romero, Mireia Boluda-Navarro, Mireya Morote-Faubel, Cristian Garcia-Ruiz, Cristina Martinez-Valiente, Marta Santiago-Balsera, Inés Gomez-Seguí, Alejandra Sanjuan-Pla, Miguel A. Sanz, Guillermo Sanz, Francesc Solé, Esperanza Such, José Cervera
Published 2021-04-01

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

by Mireia Boluda-Navarro, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Esperanza Such, Ángel Zúñiga, Roger Colobran, Roger Colobran, Roger Colobran, José Vicente Cervera, José Vicente Cervera
Published 2021-03-01