Show simple item record

dc.contributor.authorFinlayson, J.
dc.contributor.authorGhassemifar, Reza
dc.contributor.authorHolmes, P.
dc.contributor.authorGrey, D.
dc.contributor.authorNewbound, C.
dc.contributor.authorPell, N.
dc.contributor.authorJennens, M.
dc.contributor.authorGreenwood, L.
dc.contributor.authorBeilby, J.
dc.date.accessioned2017-01-30T15:36:14Z
dc.date.available2017-01-30T15:36:14Z
dc.date.created2015-10-29T04:09:57Z
dc.date.issued2012
dc.identifier.citationFinlayson, J. and Ghassemifar, R. and Holmes, P. and Grey, D. and Newbound, C. and Pell, N. and Jennens, M. et al. 2012. a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA. Hemoglobin. 36 (5): pp. 511-515.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/47879
dc.identifier.doi10.3109/03630269.2012.717053
dc.description.abstract

We describe two frameshift mutations associated with an a-thalassemia (a-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are due to single base pair deletions that cause a frameshift and a premature termination codon (PTC) at positions 48/49. The presence of a PTC at this position has been documented to result in nonsense mediated mRNA decay that would account for the thalassemic phenotype.

dc.titlea-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA
dc.typeJournal Article
dcterms.source.volume36
dcterms.source.number5
dcterms.source.startPage511
dcterms.source.endPage515
dcterms.source.issn0363-0269
dcterms.source.titleHemoglobin
curtin.departmentSchool of Biomedical Sciences
curtin.accessStatusFulltext not available


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record