A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene

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.

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Bibliographic Details
Published inHuman genetics Vol. 81; no. 3; p. 298
Main Authors Aulehla-Scholz, C, Spiegelberg, R, Horst, J
Format Journal Article
LanguageEnglish
Published Germany 01.02.1989
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Summary: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.
ISSN:0340-6717
DOI:10.1007/BF00279010