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Diagnosis of {alpha}+-thalassemias by determining the ratio of the two {alpha}-globin gene copies by oligonucleotide hybridization and melting curve analysis

Timmann, Christian, Moenkemeyer, Florian, Evans, Jennifer A., Foerster, Birgit, Tannich, Egbert, Haase, Silvia, Sievertsen, Juergen, Kohne, Elisabeth and Horstmann, Rolf D. 2005, Diagnosis of {alpha}+-thalassemias by determining the ratio of the two {alpha}-globin gene copies by oligonucleotide hybridization and melting curve analysis, Clinical chemistry, vol. 51, no. 9, pp. 1711-1713, doi: 10.1373/clinchem.2005.051375.

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Title Diagnosis of {alpha}+-thalassemias by determining the ratio of the two {alpha}-globin gene copies by oligonucleotide hybridization and melting curve analysis
Author(s) Timmann, Christian
Moenkemeyer, Florian
Evans, Jennifer A.
Foerster, Birgit
Tannich, Egbert
Haase, Silvia
Sievertsen, Juergen
Kohne, Elisabeth
Horstmann, Rolf D.
Journal name Clinical chemistry
Volume number 51
Issue number 9
Start page 1711
End page 1713
Total pages 3
Publisher American Association for Clinical Chemistry, Inc.
Place of publication Washington, D.C.
Publication date 2005-09
ISSN 0009-9147
Summary Most cases of {alpha}-thalassemia result from large deletions at the {alpha}-globin locus (1). The {alpha}-globin gene cluster contains a tandem array of 2 nearly identical {alpha}-globin genes (HBA; Fig. 1A ) (2). The {alpha}0-thalassemias are characterized by deletions that inactivate both {alpha}-globin genes of a given chromosome, whereas in {alpha}+-thalassemias, one gene remains functional. The most widespread {alpha}+-thalassemias are those designated –{alpha}3.7 and –{alpha}4.2, according to the lengths of the deleted fragments (3).
Language eng
DOI 10.1373/clinchem.2005.051375
Field of Research 110302 Clinical Chemistry (diagnostics)
Socio Economic Objective 970103 Expanding Knowledge in the Chemical Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Persistent URL http://hdl.handle.net/10536/DRO/DU:30025942

Document type: Journal Article
Collection: School of Medicine
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