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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Detalles Bibliográficos
Autores principales: Iqbal, Zafar, Rydning, Siri L., Wedding, Iselin M., Koht, Jeanette, Pihlstrøm, Lasse, Rengmark, Aina H., Henriksen, Sandra P., Tallaksen, Chantal M. E., Toft, Mathias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375131/
https://www.ncbi.nlm.nih.gov/pubmed/28362824
http://dx.doi.org/10.1371/journal.pone.0174667

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375131/
https://www.ncbi.nlm.nih.gov/pubmed/28362824
http://dx.doi.org/10.1371/journal.pone.0174667

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