Sökning: "Anne-Sophie Fröjmark"

Hittade 1 avhandling innehållade orden Anne-Sophie Fröjmark.

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

   Författare :Anne-Sophie Fröjmark; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER