Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family
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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
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2145964
Abstract: Abstract β-Thalassemia (β-thal) is one of the most common monogenic recessive inherited diseases worldwide. The mutation spectrum of β-thal has been increasingly broadened by various genetic testing methods. The discovery and identification of novel and… read more here.
Keywords: deletion; thal; thalassemia; large novel ... See more keywords