Sökning: "RPS24"
Hittade 3 avhandlingar innehållade ordet RPS24.
1. Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia
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
2. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function
Sammanfattning : Diamond-Blackfan anemia (DBA) is a severe congenital anemia characterized by a defect in red blood cell production. The disease is associated with growth retardation, malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a. LÄS MER
3. Diamond-Blackfan Anemia: Erythropoiesis Lost in Translation
Sammanfattning : Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least four genes are associated with DBA of which two have been identified so far. LÄS MER