title: Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.
abstract: Thalassemia major is a rare disorder in the German population. We describe here the characterization of the beta-globin genes of a German patient homozygous for beta-thalassemia. Gene cloning and sequencing revealed a G to T transversion at the intron 1 donor site of the beta-globin gene on both chromosomes.
authors.affiliation: Institut für Humangenetik der Universität Münster, Federal Republicof Germany.
authors.forename: A
authors.initials: A
authors.lastname: Eigel
authors.forename: J
authors.initials: J
authors.lastname: Schnee
authors.forename: R
authors.initials: R
authors.lastname: Oehme
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005796:Genes; D005860:Germany, West; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins