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Copy number variation of LINGO1 in familial dystonic tremor

OBJECTIVE: To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, dystonic tremor. METHODS: Whole-genome single nucleotide polymorphism (SNP) m...

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Detalles Bibliográficos
Autores principales: Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Lango Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T., Crosby, Andrew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384021/
https://www.ncbi.nlm.nih.gov/pubmed/30842974
http://dx.doi.org/10.1212/NXG.0000000000000307