title: A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia.
abstract: A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.
authors.affiliation: Departamento Bioquímica Clínica, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Argentina.
authors.forename: N I
authors.initials: NI
authors.lastname: Noguera
authors.forename: F A
authors.initials: FA
authors.lastname: González
authors.forename: R A
authors.initials: RA
authors.lastname: Dávoli
authors.forename: A C
authors.initials: AC
authors.lastname: Milani
authors.forename: A
authors.initials: A
authors.lastname: Villegas
mesh_terms: D000328:Adult; D000368:Aged; D001118:Argentina; D001483:Base Sequence; D002648:Child; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics*; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D005914:Globins