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  • Title: A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.
    Author: Renoux C, Feray C, Joly P, Zanella-Cleon I, Garcia C, Lacan P, Couprie N, Francina A.
    Journal: Hemoglobin; 2015; 39(1):46-8. PubMed ID: 25476778.
    Abstract:
    We report a new β-globin chain variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T]. The new variant results from a double nucleotide mutation at the same codon. The possible molecular mechanisms are discussed.
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