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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Published in | Human genetics Vol. 81; no. 3; p. 298 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Germany
01.02.1989
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Subjects | |
Online Access | Get more information |
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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. |
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ISSN: | 0340-6717 |
DOI: | 10.1007/BF00279010 |