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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 1
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Original

NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]

John S. Waye Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Health Sciences Corporation, Hamilton, Ontario, L8N 3Z5, Canada; Department of Pathology and Molecular Medicine, Faculty of Health Sciences, 1200 Main Street West, McMaster University Medical Centre, Room 3N17 McMaster University, Hamilton, Ontario, L8N 3Z5, Canada
,
Barry Eng Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Health Sciences Corporation, Hamilton, Ontario, L8N 3Z5, Canada
,
Margie Patterson Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Health Sciences Corporation, Hamilton, Ontario, L8N 3Z5, Canada
,
Marciano D. Reis Sunnybrook & Women’s College Health Sciences Centre, Toronto, Ontario, M4N 3M5, Canada
,
Denis Macdonald Sunnybrook & Women’s College Health Sciences Centre, Toronto, Ontario, M4N 3M5, Canada
&
David H. K. Chui Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Health Sciences Corporation, Hamilton, Ontario, L8N 3Z5, Canada
Pages 103-105 | Received 27 Apr 2000, Accepted 27 Jul 2000, Published online: 07 Jul 2009

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Martina Divoka, Martina Partschova, Jana Kucerova, Renata Mojzikova, Jaroslav Cermak, Dagmar Pospisilova, Viera Fabryova, Daniela Prochazkova, Karel Indrak & Vladimir Divoky. (2016) Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations. Hemoglobin 40:3, pages 156-162.
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Articles from other publishers (6)

Dirk Roos & Martin de Boer. (2021) Mutations in cis that affect mRNA synthesis, processing and translation. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1867:9, pages 166166.
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Jamie Nourse, Stefano Spada & Sven Danckwardt. (2020) Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders. Biomolecules 10:6, pages 915.
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Matthew Halvorsen, Joshua S. Martin, Sam Broadaway & Alain Laederach. (2010) Disease-Associated Mutations That Alter the RNA Structural Ensemble. PLoS Genetics 6:8, pages e1001074.
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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 .
Jian-Min Chen, Claude Férec & David N. Cooper. (2006) A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview. Human Genetics 120:1, pages 1-21.
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