title: A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene.
abstract: Larger deletions are a rare cause of beta-thalassemia. We report a further instance of a deletion comprising about 300 bp in a female heterozygote. Exon 1, part of IVS-1 and the 5' beta-globin gene promotor region are lost.
authors.affiliation: Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
authors.forename: C
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: R
authors.initials: R
authors.lastname: Spiegelberg
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins