Search for dissertations about: "Anne-sophie Fröjmark"

Found 1 swedish dissertation containing the words Anne-sophie Fröjmark.

2. 1. Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia

   Author : Anne-Sophie Fröjmark; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan Anemia; RPS19; RPS24; PIM-1; Erythropoiesis; Cell cycle; Apoptosis; Nail dysplasia; FZD6; WNT signaling; Clinical genetics; Klinisk genetik;

   Abstract : The aim of this thesis is to investigate the effect of genetic mutations on the pathophysiology of two human disorders: Diamond-Blackfan Anemia (DBA) and isolated congenital nail dysplasia. The first part of this thesis (Paper I-III) investigates the mechanism associated with DBA. READ MORE