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  • Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

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Mutation report
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

Authors

  1. Dr M Bourbon, Unidade de investigação Cardiovascular, Instituto Nacional de Saúde Dr Ricardo Jorge, 1649-016 Lisboa, Portugal; mafalda.bourbon{at}insa.min-saude.pt
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Citation

Bourbon M, Duarte MA, Alves AC, et al
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
Journal of Medical Genetics 2009;46:352-357.

Publication history

  • Received December 18, 2007
  • Revised November 6, 2008
  • Accepted November 14, 2008
  • First published May 1, 2009.
Online issue publication 
April 27, 2016

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2009 BMJ Publishing Group