| Literature DB >> 25897479 |
John S Waye1, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa M Nakamura, Lynda Walker.
Abstract
We report a case of α(+)-thalassemia (α(+)-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.Entities:
Keywords: frameshift; point mutation; α-Thalassemia (α-thal)
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Year: 2015 PMID： 25897479 DOI： 10.3109/03630269.2015.1030410
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849