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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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書誌詳細
出版年:Neurol Genet
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Wolters Kluwer 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6384021/
https://ncbi.nlm.nih.gov/pubmed/30842974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000307
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