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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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 parallel, next...

Полное описание

Библиографические подробности
Главные авторы: Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel 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, Ragoussis, J
Формат: Journal article
Язык:English
Опубликовано: 2013

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