Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia

Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia

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. DBA is a rare bone...

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Bibliographic Details
Main Author: Fröjmark, Anne-Sophie
Format: Doctoral Thesis
Language:English
Published: Uppsala universitet, Institutionen för genetik och patologi 2010
Subjects:
Diamond-Blackfan Anemia
RPS19
RPS24
PIM-1
Erythropoiesis
Cell cycle
Apoptosis
Nail dysplasia
FZD6
WNT signaling
Clinical genetics
Klinisk genetik
Online Access:http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128067
http://nbn-resolving.de/urn:isbn:978-91-554-7849-0

Internet

http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128067
http://nbn-resolving.de/urn:isbn:978-91-554-7849-0

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