Ana Marin-Quilez, MSc

Postdoctoral researcher
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB, CIBERER-U765, Murcia, Spain

Ana Marin Quilez. PhD student at the University of Salamanca, Centro de Investigación del Cáncer - CSIC. IBSAL, Departamento de Hematología, Hospital Universitario de Salamanca. 37007, Salamanca, Spain.
Focus on the molecular and funcional characterization of novel genes and variants involved in congenital platelet disorders. Experience with whole-exome sequencing and in vitro and in vivo models.

Presentation(s):

• PB0334 - A novel R1162S variant in MYH9 alters the biochemical interactions and dynamics of NMMHC-IIA, induces severe macrothrombocytopenia and perturbs leukocyte function and cellular coherence

  Sunday, July 10, 2022
  6:30 PM – 7:30 PM

• OC 59.4 - Novel variants in GALE caused syndromic macrothrombocytopenia disrupting thrombopoiesis and glycosylation

  Tuesday, July 12, 2022
  11:30 AM – 11:45 AM

• PB1245 - Uncommon arterial and venous thrombotic complications in Bernard Soulier Syndrome and Glanzmann Thrombasthenia patients

  Tuesday, July 12, 2022
  6:30 PM – 7:30 PM

• PB1248 - Integrated diagnostic workflow in two siblings with albinism and suspected Hermansky-Pudlak syndrome

  Tuesday, July 12, 2022
  6:30 PM – 7:30 PM