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Start Over Author "Spiegelberg, R." Journal human genetics
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2. A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene.

Author

Aulehla-Scholz C, Spiegelberg R, and Horst J

Subjects
Blotting, Southern, Female, Heterozygote, Humans, Chromosome Deletion, Globins genetics, Thalassemia genetics
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.

Published
1989
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