The common signalling subunit, hβc in the myeloproliferative disorder, Polycythemia vera
Date
2003
Authors
Butcher, Carolyn Marie
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Abstract
Aims to determine whether mutations of the gene encoding hβc (CSF2RB) are present in Polycythemia vera. Two possible PV specific single nucleotide substitutions were detected that result in non-conservative amino acid substitutions, F451S and R472I, within the transmembrane and the intracytopasmic box 1 motifs of hβc, Discusses the potential significance of these alterations with regard to receptor signalling and PV. In addition, an alternatively-spliced variant of hβc ([delta]1041-1045) was identified in both normal and PV patient samples. This mRNA species encodes a truncated, soluble form of the receptor and is expressed at a low level in PBMNC.
School/Discipline
Dept. of Medicine
Dissertation Note
Thesis (M.Med.Sc.) -- University of Adelaide, Dept. of Medicine, 2003.
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