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Hemoglobin
international journal for hemoglobin research
Volume 30, 2006 - Issue 2
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ORIGINAL ARTICLE

Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening

Barry Eng Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
,
Margie Patterson Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
,
Lynda Walker Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
,
Carolyn Hoppe Children's Hospital and Research Center at Oakland, Oakland, California, USA
,
Mahin Azimi Children's Hospital and Research Center at Oakland, Oakland, California, USA
,
Helen Lee Children's Hospital and Research Center at Oakland, Oakland, California, USA
,
Piero C. Giordano Hemoglobinopathies Laboratory, Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
&
John S. Waye Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, CanadaCorrespondence[email protected]
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Pages 149-153 | Received 24 Aug 2005, Accepted 23 Nov 2005, Published online: 07 Jul 2009

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Runa M. Grimholt, Bente Fjeld & Olav Klingenberg. (2021) Hemoglobinopathy gone astray—three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing. Scandinavian Journal of Clinical and Laboratory Investigation 81:8, pages 670-678.
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John S. Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura & Lynda Walker. (2016) Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A). Hemoglobin 40:5, pages 369-370.
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Piero C. Giordano, Marjon H. Cnossen, Annemarie M.S. Joosten, Cees A.M. Jansen, Tineke E. Hakvoort, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Peter van Delft, John S. Waye, Marelle J. Bouva & Cornelis L. Harteveld. (2010) Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening. Hemoglobin 34:4, pages 354-365.
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Philippe Joly, Brigitte Pégourié, Stéphane Courby, Claire Barro, Gérard Besson, Laura Cohen, Caroline Garcia & Alain Francina. (2008) Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques. Hemoglobin 32:4, pages 411-417.
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Hong-Yuang Luo, Adeboye H. Adewoye, Monika Pilichowska, Michael Yunlong Li, Raveen K. Basran, Martin H. Steinberg & David H.K. Chui. (2007) Two New α-Thalassemia Frameshift Mutations. Hemoglobin 31:2, pages 135-139.
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Articles from other publishers (6)

Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso & Giuseppina Lacerra. (2021) mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (−C)] and Sciacca [α1 cod109 (−C)]. Biomedicines 9:10, pages 1390.
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Talal Qadah, Jill Finlayson, Maxine Dennis & Reza Ghassemifar. (2014) Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2:c.-59C>T], [HBA2:c.-81C>A] and [HBA2:c.-91G>A] reveal varying patterns of transcriptional and translational activities. Pathology 46:1, pages 46-52.
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Cornelis L Harteveld & Douglas R Higgs. (2010) α-thalassaemia. Orphanet Journal of Rare Diseases 5:1.
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Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 241 265 .
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. WeatherallDouglas R. Higgs. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 239 240 .
Katarzyna Albrecht-Stanisławska & Michał Matysiak. (2009) Co nowego w rozpoznawaniu i leczeniu talasemii. Pediatria Polska 84:3, pages 207-216.
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