Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

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<p>Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively paral...

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書誌詳細
主要な著者: Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A
フォーマット: Journal article
言語:English
出版事項: Oxford University Press 2013
主題:
Neuroscience
Medical sciences
Neurology

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