TechnicianServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, SpainMurcia, Murcia, Spain
OC 65.3 - LongRead Nanopore Sequencing reveal novel structural variants in ITGB3, HPS5 and HPS3, allowing genetic diagnosis of Glanzmann's Thrombasthenia and Hermansky-Pudlak Syndrome in four unrelated patients
Tuesday, June 27, 202315:15 – 15:30 ET
OC 75.4 - Unraveling the molecular base of FXI deficiency in 96 unrelated Caucasian patients by short- and long-read based sequencing methods: biochemical, functional and clinical consequences
Wednesday, June 28, 202311:00 – 11:15 ET
