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.
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.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot , Lyon , France .
authors.forename: Céline
authors.initials: C
authors.lastname: Renoux
authors.forename: Cécile
authors.initials: C
authors.lastname: Feray
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Isabelle
authors.initials: I
authors.lastname: Zanella-Cleon
authors.forename: Caroline
authors.initials: C
authors.lastname: Garcia
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Nicole
authors.initials: N
authors.lastname: Couprie
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D001483:Base Sequence; D003062:Codon; D005260:Female; D005785:Gene Conversion; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D055544:beta-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins
keywords: double tandem base substitution; gene conversion; variants; β-Globin