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Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

Many laboratories worldwide are offering molecular genetic testing for spinocerebellar ataxias (SCAs). This is essential for differential diagnosis and adequate genetic counselling. The European Molecular Genetics Quality Network (EMQN) started an SCA external quality assessment scheme in 2004. Ther...

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Bibliografische gegevens
Hoofdauteurs: Sequeiros, Jorge, Seneca, Sara, Martindale, Joanne
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2010
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987480/
https://ncbi.nlm.nih.gov/pubmed/20179748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.10
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