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Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation

OBJECTIVE: The molecular diagnosis of adult-onset autosomal recessive cerebellar ataxias remains challenging because of genetic heterogeneity. However, recently developed molecular genetic techniques will potentially revolutionise the diagnostic approach. Here we set out to define the genetic basis...

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Bibliografski detalji
Glavni autori: Pyle, Angela, Griffin, Helen, Duff, Jennifer, Zwolinski, Simon, Smertenko, Tania, Yu-Wai-Man, Patrick, Santibanez-Koref, Mauro, Horvath, Rita, Chinnery, Patrick F.
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4038496/
https://ncbi.nlm.nih.gov/pubmed/24180463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/01677063.2013.831094
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