Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family
Sign Up to like & getrecommendations! Published in 2017 at "Hemoglobin"
DOI: 10.1080/03630269.2017.1366919
Abstract: Abstract We report a large novel α-globin cluster deletion that we named – –PG (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the… read more here.
Keywords: deletion; novel globin; large novel; gene ... See more keywords
Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).
Sign Up to like & getrecommendations! Published in 2023 at "Hematology"
DOI: 10.1080/16078454.2023.2213545
Abstract: OBJECTIVES To report the hematological and molecular characteristics of a novel α-globin variant found among Chinese families. METHODS This study was done on two unrelated families (F1 and F2). Hematological results were obtained by an… read more here.
Keywords: characteristics novel; hematological molecular; variant; novel globin ... See more keywords
Identification of novel γ-globin inducers among all potential erythroid druggable targets
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DOI: 10.1182/bloodadvances.2021006802
Abstract: Key Points New target genes for γ-globin induction identified among all current potential therapeutic agents in an erythroid-biased CRISPR screen. Top novel drug candidates and pathways for fetal hemoglobin induction examined and validated. read more here.
Keywords: potential erythroid; novel globin; globin inducers; inducers among ... See more keywords
Hb Qinzhou [α1 78 (EF7) Asn→Lys (AAC>AAA); HBA1:c.237C>A]: a Novel α-Globin Variant in a Chinese Family.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical laboratory"
DOI: 10.7754/clin.lab.2022.220921
Abstract: BACKGROUND Many new variants are constantly detected by capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). Here, we described a novel α-globin gene mutation. METHODS The proband was a 46-year-old male who came to the… read more here.
Keywords: aac aaa; novel globin; pcr; lys aac ... See more keywords