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

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).

Keywords:

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

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

Information for

Open access

Opportunities

Help and information

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

Abstract

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date

Your download is now in progress and you may close this window

Login or register to access this feature