Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

BACKGROUND: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied 3 families diagnosed with ARCA. METHODS: To determine the gene lesions responsible for their disorders, we performed high density SNP genotyping and exome seq...

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Publicado en:Eur J Neurol
Autores principales: Hammer, Monia B, Eleuch-Fayache, Ghada, Gibbs, J Raphael, Arepalli, Sampath K, Chong, Sean B, Sassi, Celeste, Bouhlal, Yosr, Hentati, Fayçal, Amouri, Rim, Singleton, Andrew B
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4669564/
https://ncbi.nlm.nih.gov/pubmed/23043354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-1331.2012.03883.x
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