title: Phenotypic evaluations of -223 T>C (HBB:c.-223T>C) nucleotide substitution in the promoter region of β-globin gene.
authors.affiliation: Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies, Hospital "Villa Sofia-Cervello", Palermo, Italy. Electronic address: a.giambona@villasofia.it.
authors.forename: Antonino
authors.initials: A
authors.lastname: Giambona
authors.affiliation: Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies, Hospital "Villa Sofia-Cervello", Palermo, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Passarello
authors.affiliation: Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies, Hospital "Villa Sofia-Cervello", Palermo, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Cassarà
authors.affiliation: Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies, Hospital "Villa Sofia-Cervello", Palermo, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Cannata
authors.affiliation: Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies, Hospital "Villa Sofia-Cervello", Palermo, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Leto
authors.affiliation: Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies, Hospital "Villa Sofia-Cervello", Palermo, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Vinciguerra
mesh_terms: D006801:Humans; D009154:Mutation; D011401:Promoter Regions, Genetic; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins