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Two different mutations in codon 97 of the β-globin gene cause Hb Malmö in Sweden

✍ Scribed by Landin, Britta; Berglund, Stig; Wallman, Kristina

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
323 KB
Volume
51
Category
Article
ISSN
0361-8609

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✦ Synopsis

An abnormal hemoglobin with increased oxygen affinlty, Hb Maim6 [a,p297(FG4)His-Gln], was found to cause erythrocytosis In two apparently unrelated Swedish families. Direct nucieotide sequencing of amplitled DNA demonstrated a CACXAA substitutlon In one family and a CAC-CAG substitution in the other. Both mutations resulted in a Hls-Gin Substitution In codon 97. This finding prompted us to examlne the possible point mutations underlying the different hemoglobin variants reported In the Ilterature.

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