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Functional Characterisation of SH2B3 Variants in Haematological Disease

thesis
posted on 2024-10-13, 02:14 authored by Liesl Ann Butler
This thesis examined the genetics of a group of chronic blood cancers, know as the myeloproliferative neoplasms (MPN). MPN cause abnormalities in the bone marrow and overproduction of cells in the blood. This study focused on a gene called SH2B3. Whilst some individuals with MPN have mutations in this gene, many of these mutations have not been established as a cause for the cancer. Through analysing cells, mice, and humans with SH2B3 mutations, this research demonstrated that some SH2B3 mutations are inherited, common within the general population, and can result in higher blood counts and an MPN.

History

Principal supervisor

Andrew Perkins

Additional supervisor 1

Andrew Murphy

Additional supervisor 2

Jessica Salmon

Year of Award

2024

Department, School or Centre

Clinical Haematology (Australian Centre for Blood Diseases)

Campus location

Australia

Course

Doctor of Philosophy

Degree Type

DOCTORATE

Faculty

Faculty of Medicine, Nursing and Health Sciences

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    Faculty of Medicine, Nursing and Health Sciences Theses

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