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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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Autors principals: Sequeiros, Jorge, Seneca, Sara, Martindale, Joanne
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2010
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Accés en línia: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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