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Hemoglobin
international journal for hemoglobin research
Volume 30, 2006 - Issue 1
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SHORT COMMUNICATION

A New Electrophoretically Silent β-Globin Variant in a Portuguese Family: Hb Viseu [β57(E1)Asn→Thr]

Hannes Frischknecht Institute for Medical & Molecular Diagnostics Ltd, CH-8047, Zürich, SwitzerlandCorrespondence[email protected]
,
Heinz Troxler Department of Pediatrics, Division of Clinical Chemistry, University of Zürich, CH-8032, Zürich, Switzerland
,
Catherine Forster , 40, Av. du Lignon, CH-1219, Le Lignon, Switzerland
&
Fabrizio Dutly Institute for Medical & Molecular Diagnostics Ltd, CH-8047, Zürich, Switzerland
Pages 23-27 | Received 24 Aug 2005, Accepted 13 Sep 2005, Published online: 07 Jul 2009
 
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Abstract

A new electrophoretically and clinically silent β-globin variant has been detected by DNA analysis. The mutation was demonstrated at the protein level by reversed phase high performance liquid chromatography (HPLC) and electrospray ionization-mass spectrometry (ESI-MS).

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