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Original Research

Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes

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Matteo Zurlo, Jessica Gasparello, Lucia Carmela Cosenza, Giulia Breveglieri, Chiara Papi, Cristina Zuccato, Roberto Gambari & Alessia Finotti. (2023) Production and Characterization of K562 Cellular Clones Hyper-Expressing the Gene Encoding α-Globin: Preliminary Analysis of Biomarkers Associated with Autophagy. Genes 14:3, pages 556.
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Huan-Qing Chen, Li-Sha Wu, Fan Jiang & Dong-Zhi Li. (2022) Co-inherited α-Globin Gene Cluster Duplication Compromises RBC Indices-Based Thalassemia Screening. Indian Journal of Hematology and Blood Transfusion.
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Cornelis L. Harteveld, Ahlem Achour, Sandra J. G. Arkesteijn, Jeanet ter Huurne, Maaike Verschuren, Sharda Bhagwandien‐Bisoen, Rianne Schaap, Linda Vijfhuizen, Hakima el Idrissi & Tamara T. Koopmann. (2022) The hemoglobinopathies, molecular disease mechanisms and diagnostics. International Journal of Laboratory Hematology 44:S1, pages 28-36.
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Ju Long, Lei Sun, Feifei Gong, Chenghong Zhang, Aiping Mao, Yulin Lu, Jiaqi Li & Enqi Liu. (2022) Third-generation sequencing: A novel tool detects complex variants in the α-thalassemia gene. Gene 822, pages 146332.
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Lauren J. Isley, Aleisha K. Chamberlain, Pamela Callum & Jaime Shamonki. (2021) Comparison of methodologies to detect hemoglobinopathy carriers in a multi‐ethnic sperm donor population. Journal of Genetic Counseling 30:5, pages 1399-1406.
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Pallavi Mehta, Pratibha Sawant, Manju Gorivale, Anita Nadkarni, Roshan Colah & Malay B. Mukherjee. (2020) Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies. International Journal of Laboratory Hematology 42:4, pages 482-491.
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S. Liu, L.‐Y. Huang, F. Jiang, X.‐F. Sun & D.‐Z. Li. (2018) Complex interactions between thalassemia defective alleles compromise screening and cause severe anemia in a Chinese family. International Journal of Laboratory Hematology 40:3.
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