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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented clinical exome sequencing, followed by filtering data for a ‘movement disorders' gene panel, as a generic test to increase...

詳細記述

保存先:
書誌詳細
出版年:Eur J Hum Genet
主要な著者: van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027687/
https://ncbi.nlm.nih.gov/pubmed/27165006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.42
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