期刊
HEMOGLOBIN
卷 37, 期 1, 页码 80-84出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/03630269.2012.749275
关键词
delta-Globin gene; Hb A(2); Variant; Double mutation; Low expression
We report two new variants of the delta-globin gene: Hb A(2)-Saint-Etienne [delta 14(A11)Leu -> Pro] and Hb A(2)-Marseille [delta 22(B4)Ala -> Lys]. The first variant has a low rate of expression, the second results from a double nucleotide mutation on the same codon.
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