Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)
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DOI: 10.1080/03630269.2022.2072325
Abstract: Abstract We report a de novo frameshift mutation in exon 3 of the β-globin gene that leads to a β-thalassemia (β-thal) intermedia (β-TI) phenotype in a 6-year-old Chinese boy. This novel mutation with deletion of… read more here.
Keywords: deletion; exon globin; dominantly inherited; globin gene ... See more keywords