IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)

John S. Waye Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, L8N 3Z5, Canada; Department of Pathology and Molecular Medecine, McMaster University Medical Centre, Room 3N17, McMaster University Faculty of Health Sciences, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5, Canada

Lynda Walker Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, L8N 3Z5, Canada

Margaret Patterson Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, L8N 3Z5, Canada

David H. K. Chui Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, L8N 3Z5, Canada; Department of Pathology and Molecular Medecine, McMaster University Medical Centre, Room 3N17, McMaster University Faculty of Health Sciences, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5, Canada

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Markus Schmugge, John S. Waye, Raveen K. Basran, Karin Zurbriggen & Hannes Frischknecht. (2008) THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele. Hemoglobin 32:3, pages 303-307.
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Articles from other publishers (4)

Wenguang Jia, Weidong Wang, Hengying Zhu & Ping Chen. (2019) A Novel Mutation at HBB: c.91delA (Codon 30, –A) Causing β-Thalassemia in a Chinese Family. Acta Haematologica 142:4, pages 249-252.
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Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. WeatherallSwee Lay Thein & William G. Wood. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 323 356 .

Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 321 322 .

John S. Waye, Barry Eng, Murray A. Potter, Małgorzata J.M. Nowaczyk, Deborah McFadden & Sylvie Langlois. (2007) De novo mutation of theDHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome. American Journal of Medical Genetics Part A 143A:15, pages 1799-1801.
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IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)

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IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)

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