Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant

por Jurk, Kerstin, Adenaeuer, Anke, Sollfrank, Stefanie, Groß, Kathrin, Häuser, Friederike, Czwalinna, Andreas, Erkel, Josef, Fritsch, Nele, Marandiuc, Dana, Schaller, Martin, Lackner, Karl J., Rossmann, Heidi, Bergmann, Frauke
Publicado 2022

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

por Busch, Albert, Hoffjan, Sabine, Bergmann, Frauke, Hartung, Birgit, Jung, Helena, Hanel, Daniela, Tzschach, Andeas, Kadar, Janos, von Kodolitsch, Yskert, Germer, Christoph-Thomas, Trobisch, Heiner, Strasser, Erwin, Wildenauer, René
Publicado 2016