Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spast...

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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Iqbal, Zafar, Rydning, Siri L., Wedding, Iselin M., Koht, Jeanette, Pihlstrøm, Lasse, Rengmark, Aina H., Henriksen, Sandra P., Tallaksen, Chantal M. E., Toft, Mathias
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5375131/
https://ncbi.nlm.nih.gov/pubmed/28362824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0174667
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