Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis t...

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Detalles Bibliográficos
Autores principales: Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784862/
https://www.ncbi.nlm.nih.gov/pubmed/32934340
http://dx.doi.org/10.1038/s41431-020-00720-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784862/
https://www.ncbi.nlm.nih.gov/pubmed/32934340
http://dx.doi.org/10.1038/s41431-020-00720-w

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