title: Novel human pathological mutations. Gene symbol: HBB. Disease: haemoglobin variant.
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: Claudia
authors.initials: C
authors.lastname: Cesaretti
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Fasulo
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*
chemical_list: D003062:Codon; D006454:Hemoglobins; D009711:Nucleotides; C020622:hemoglobin B