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EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic te...

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Detalles Bibliográficos
Autores principales:	Losekoot, Monique, van Belzen, Martine J, Seneca, Sara, Bauer, Peter, Stenhouse, Susan A R, Barton, David E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2013
Materias:	Policy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641377/ https://www.ncbi.nlm.nih.gov/pubmed/22990145 http://dx.doi.org/10.1038/ejhg.2012.200

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