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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

Authors

  • Marta Futema Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Science, The Rayne Buliding University College London, London, UK PubMed articlesGoogle scholar articles
  • Vincent Plagnol Department of Genetics, Environment and Evolution, UCL Genetics Institute, University College London, London, UK PubMed articlesGoogle scholar articles
  • Ros A Whittall Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Science, The Rayne Buliding University College London, London, UK PubMed articlesGoogle scholar articles
  • H Andrew W Neil Department of Primary Care Health Sciences, NIHR School of Primary Care Research, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Steve Eric Humphries Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Science, The Rayne Buliding University College London, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Steve Eric Humphries, Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute Cardiovascular Science, University College London Medicine School, The Rayne Building, 5 University Street, London WC1E 6JF, UK; rmhaseh{at}ucl.ac.uk
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Citation

Futema M, Plagnol V, Whittall RA, et al
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
Journal of Medical Genetics 2012;49:644-649.

Publication history

  • Received July 25, 2012
  • Revised September 2, 2012
  • Accepted September 4, 2012
  • First published October 10, 2012.
Online issue publication 
July 29, 2016

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