title: Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient.
abstract: Sequence analysis and dot-blot hybridization of DNA from a Greek patient with a transfusion dependent thalassemia revealed the combination of a beta IVS-I-1 G----A mutation (beta(0) -thalassemia) and a hitherto undescribed frameshift mutation; the latter concerns the absence of a CT dinucleotide from codon 5 and results in a termination signal at the new codon 21 (also a beta (0)-thalassemia).
authors.affiliation: First Department of Medicine, University of Athens School of Medicine, Laikon Hospital, Greece.
authors.forename: P
authors.initials: P
authors.lastname: Kollia
authors.forename: J M
authors.initials: JM
authors.lastname: Gonzalez-Redondo
authors.forename: T A
authors.initials: TA
authors.lastname: Stoming
authors.forename: D
authors.initials: D
authors.lastname: Loukopoulos
authors.forename: C
authors.initials: C
authors.lastname: Politis
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010443:Peptide Chain Termination, Translational; D013789:Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins