Response to the paper titled "Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy"

Tracey D Graves Department of Neurology, North West Anglia NHS Foundation Trust, Hinchingbrooke Hospital, Huntingdon, UKI have just read this article.1 I have issues with the authors denoting the insertion of CAG as a new mutation. This is located within a polyglutamine tract, which is known to be...

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Auteur principal: Graves TD
Format: article
Langue:EN
Publié: Dove Medical Press 2018
Sujets:
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Accès en ligne:https://doaj.org/article/047982f3e9b342c4b094268c78149393
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