Cherchi, Laura and Palici di Suni, Marcella and Manca, Laura and Masala, Bruno Lucio (2000) Characterization by DNA sequencing of Hb F-Columbus-GA [Gγ94(FG1)Asp→Asn] observed in Sardinian newborn. Hemoglobin, Vol. 24 (1), p. 53-57. eISSN 1532-432X. Article.
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This article refers to the second observation of the variant Hb F-Columbus-GA in families of Sardinian origin, the first to be ascertained at the DNA level. Sequencing of the amplified GγX-globin genes in eight newborns revealed the GAC →AAC transition occurring at codon 94 (exon 2) which resulted in an Asp →Asn amino acid substitution at position FG1. This mutation thus corresponds to Hb F-Columbus-GA, already described in Georgia (USA) in a newborn of Caucasian ancestry.
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