Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large n...

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Détails bibliographiques
Auteurs principaux: Charlesworth, Gavin, Plagnol, Vincent, Holmström, Kira M., Bras, Jose, Sheerin, Una-Marie, Preza, Elisavet, Rubio-Agusti, Ignacio, Ryten, Mina, Schneider, Susanne A., Stamelou, Maria, Trabzuni, Daniah, Abramov, Andrey Y., Bhatia, Kailash P., Wood, Nicholas W.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516598/
https://ncbi.nlm.nih.gov/pubmed/23200863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.024
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