title: Novel human pathological mutations. Gene symbol: HBA2. Disease: Thalassemia alpha.
authors.affiliation: Internal Medicine, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy. chiararefaldi@hotmail.com
authors.forename: Chiara
authors.initials: C
authors.lastname: Refaldi
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Fasulo
authors.forename: Claudia
authors.initials: C
authors.lastname: Cesaretti
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D004484:Ecuador; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics*; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; D006443:Hemoglobin A2