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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027687/
https://www.ncbi.nlm.nih.gov/pubmed/27165006
http://dx.doi.org/10.1038/ejhg.2016.42

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027687/
https://www.ncbi.nlm.nih.gov/pubmed/27165006
http://dx.doi.org/10.1038/ejhg.2016.42

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