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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 3
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Original Article

Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon

Talal QadahDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia;Department of Medical Laboratory Science, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
,
Jill FinlaysonDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia
,
Christopher NewboundDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Nicole PellDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Michelle PascoeDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Laura GreenwoodDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Paula HolmesDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Dianne GreyDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
John BeilbySchool of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia;Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
&
Reza GhassemifarDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western AustraliaCorrespondence[email protected]
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Pages 244-252 | Received 12 Dec 2011, Accepted 27 Jan 2012, Published online: 23 Apr 2012

Citations (3)

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Read on this site (2)

Li Lin, Biyan Chen, Shang Yi, Qiuli Chen, Hongwei Wei, Guojian Li, Chenguang Zheng, Xiao-Xia Qiu & Sheng He. (2017) A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]. Hemoglobin 41:1, pages 65-67.
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Talal Qadah, Jill Finlayson, Philippe Joly & Reza Ghassemifar. (2014) Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon. Hemoglobin 38:1, pages 13-18.
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Articles from other publishers (1)

Christopher R. Sibley. (2014) Regulation of gene expression through production of unstable mRNA isoforms. Biochemical Society Transactions 42:4, pages 1196-1205.
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